P25189 (MYP0_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Myelin protein P0

Alternative name(s):
Myelin peripheral protein
Short name=MPP
Myelin protein zero

Gene names

Name:

MPZ

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	248 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Creation of an extracellular membrane face which guides the wrapping process and ultimately compacts adjacent lamellae.
Subunit structure	Homodimer and homotetramer Probable. Ref.15
Subcellular location	Cell membrane; Single-pass type I membrane protein Ref.11. Isoform L-MPZ: Myelin membrane; Single-pass type I membrane protein Ref.11.
Tissue specificity	Found only in peripheral nervous system Schwann cells.
Post-translational modification	N-glycosylated; contains sulfate-substituted glycan By similarity.
Involvement in disease	Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]: A dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.2 Ref.9 Ref.10 Ref.16 Ref.17 Ref.18 Ref.19 Ref.21 Ref.22 Ref.23 Ref.25 Ref.26 Ref.27 Ref.28 Ref.29 Ref.30 Ref.31 Ref.34 Ref.35 Ref.36 Ref.40 Ref.43 Ref.44 Ref.45 Ref.47 Ref.50 Ref.51 Ref.53 Ref.54 Ref.55 Ref.56 Ref.58 Ref.60 Ref.61 Ref.62 Ref.64 Ref.69 Ref.70 Ref.72 Charcot-Marie-Tooth disease 2I (CMT2I) [MIM:607677]: A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal regeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.37 Ref.54 Ref.63 Ref.66 Charcot-Marie-Tooth disease 2J (CMT2J) [MIM:607736]: A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal regeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. Charcot-Marie-Tooth disease type 2J is characterized by the association of axonal peripheral neuropathy with hearing loss and pupillary abnormalities such as Adie pupil. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.39 Ref.49 Ref.68 Ref.73 Adie pupil (ADIEP) [MIM:103100]: A stationary, benign disorder characterized by tonic, sluggishly reacting pupil and hypoactive or absent tendon reflexes. Adie pupil is a characteristic of Charcot-Marie-Tooth disease type 2J. Note: The disease is caused by mutations affecting the gene represented in this entry. Charcot-Marie-Tooth disease, dominant, intermediate type, D (CMTDID) [MIM:607791]: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. The dominant intermediate type D is characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. Note: The disease may be caused by mutations affecting the gene represented in this entry. Ref.42 Dejerine-Sottas syndrome (DSS) [MIM:145900]: A severe degenerating neuropathy of the demyelinating Charcot-Marie-Tooth disease category, with onset by age 2 years. Characterized by motor and sensory neuropathy with very slow nerve conduction velocities, increased cerebrospinal fluid protein concentrations, hypertrophic nerve changes, delayed age of walking as well as areflexia. There are both autosomal dominant and autosomal recessive forms of Dejerine-Sottas syndrome. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.20 Ref.24 Ref.28 Ref.30 Ref.32 Ref.33 Ref.34 Ref.36 Ref.50 Ref.52 Ref.54 Ref.60 Congenital hypomyelination neuropathy (CHN) [MIM:605253]: A severe degenerating neuropathy, clinically characterized by early onset of hypotonia, areflexia, distal muscle weakness, and very slow nerve conduction velocities (as low as 3m/s). Results from a congenital impairment in myelin formation. Inheritance can be autosomal dominant or recessive. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.67 Roussy-Levy syndrome (ROULS) [MIM:180800]: Autosomal dominant disorder that resembles Charcot-Marie-Tooth disease type 1 in that it presents with foot deformity, weakness and atrophy of distal limb muscles, especially the peronei, and absent tendon reflexes. The phenotype differs, however, in that it includes static tremor of the upper limbs and gait ataxia. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.38
Sequence similarities	Belongs to the myelin P0 protein family. Contains 1 Ig-like V-type (immunoglobulin-like) domain.
Sequence caution	The sequence AAH06491.1 differs from that shown. Reason: Erroneous initiation. The sequence AAP35411.1 differs from that shown. Reason: Erroneous initiation. The sequence BAA03540.1 differs from that shown. Reason: Erroneous initiation. The sequence BAG36330.1 differs from that shown. Reason: Erroneous initiation. The sequence CAH70270.1 differs from that shown. Reason: Erroneous initiation. The sequence EAW52606.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Cellular component	Cell membrane Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Charcot-Marie-Tooth disease Deafness Dejerine-Sottas syndrome Disease mutation Neuropathy
Domain	Immunoglobulin domain Signal Transmembrane Transmembrane helix
PTM	Disulfide bond Glycoprotein Phosphoprotein
Technical term	3D-structure Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological_process	cell-cell junction maintenance Inferred from electronic annotation. Source: Compara synaptic transmission Traceable author statement Ref.18. Source: ProtInc
Cellular_component	integral to plasma membrane Traceable author statement Ref.20. Source: ProtInc myelin sheath Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	structural molecule activity Non-traceable author statement Ref.18. Source: ProtInc
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: P25189-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform L-MPZ (identifier: P25189-2)

The sequence of this isoform differs from the canonical sequence as follows:
     248-248: K → KRLAGRAGDRGLGVESAKGPKVMVIEMELRKDEQSPELRPAVKSPSRTSLKNALKNMMGLNSDK

Note: Based on a naturally occurring readthrough transcript. Highly antigenic.

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Signal peptide

1 – 29

29

Chain

30 – 248

219

Myelin protein P0

PRO_0000019300

Regions

Topological domain

30 – 153

124

Extracellular Potential

Transmembrane

154 – 179

26

Helical; Potential

Topological domain

180 – 248

69

Cytoplasmic Potential

Domain

30 – 143

114

Ig-like V-type

Amino acid modifications

Modified residue

210

1

Phosphoserine; by PKC By similarity

Modified residue

216

1

Phosphothreonine By similarity

Modified residue

226

1

Phosphoserine By similarity

Modified residue

228

1

Phosphoserine By similarity

Modified residue

233

1

Phosphoserine; by PKC By similarity

Modified residue

243

1

Phosphoserine; by PKC By similarity

Glycosylation

122

1

N-linked (GlcNAc...) (complex) By similarity

Disulfide bond

50 ↔ 127

Ref.15

Natural variations

Alternative sequence

248

1

K → KRLAGRAGDRGLGVESAKGP KVMVIEMELRKDEQSPELRP AVKSPSRTSLKNALKNMMGL NSDK in isoform L-MPZ.

VSP_045844

Natural variant

30

1

I → M in CMT1B. Ref.16

VAR_004500

Natural variant

32

1

V → F in CMT1B; severe. Ref.48

VAR_004501

Natural variant

34

1

T → I in CMT1B. Ref.27

VAR_004502

Natural variant

35

1

D → Y in CMTDID. Ref.42 Ref.59

VAR_015971

Natural variant

39

1

H → P in CMT1B; slightly reduces intercellular adhesion; does not affect targeting to the cell membrane. Ref.64 Ref.70

VAR_054393

Natural variant

42

1

Missing in DSS. Ref.52

VAR_031884

Natural variant

44

1

S → F in CMT2I and CMT1B. Ref.37 Ref.64

VAR_004503

Natural variant

50

1

Missing in CMT1B. Ref.64

VAR_054394

Natural variant

51 – 57

7

Missing in CMT1B; affects targeting to the cell membrane; reduces intercellular adhesion.

VAR_054395

Natural variant

51

1

S → F in CMT1B. Ref.51

VAR_029971

Natural variant

54

1

S → C in CMT1B; severe.

VAR_004504

Natural variant

54

1

S → P in CMT1B. Ref.40

VAR_004505

Natural variant

56

1

E → K in CMT2. Ref.65

VAR_054396

Natural variant

58

1

V → F in CMT1B; moderate. Ref.35

VAR_004506

Natural variant

60

1

D → H in CMT2I. Ref.63

VAR_029972

Natural variant

61

1

D → G in CMT2; unclassified. Ref.46

VAR_031885

Natural variant

62

1

I → F in CMT1B. Ref.43 Ref.59

VAR_015972

Natural variant

62

1

I → M in CMT2I. Ref.63

VAR_029973

Natural variant

63

1

S → C in DSS. Ref.20

VAR_004508

Natural variant

63

1

S → F in CMT1B. Ref.22 Ref.50

VAR_004509

Natural variant

63

1

Missing in CMT1B. Ref.9 Ref.55 Ref.59

VAR_004507

Natural variant

64

1

Missing in CMT1B and DSS. Ref.24

VAR_004510

Natural variant

65

1

T → A in CMT1B. Ref.72

VAR_031886

Natural variant

65

1

T → I in CMT1B. Ref.55

VAR_029974

Natural variant

68

1

Y → C in CMT1B; severe/mild. Ref.35 Ref.48 Ref.55 Ref.59

VAR_004511

Natural variant

75

1

D → V in CMT2J. Ref.49 Ref.55 Ref.59

VAR_015973

Natural variant

78

1

S → L in CMT1B; severe. Ref.21 Ref.23 Ref.30 Ref.36 Ref.45 Ref.51 Ref.54 Ref.60

VAR_004512

Natural variant

78

1

S → W in CMT1B. Ref.61

VAR_031887

Natural variant

81

1

H → R in CMT1B; severe; reduces intercellular adhesion; does not affect targeting to the cell membrane. Ref.31 Ref.59 Ref.70

VAR_004513

Natural variant

81

1

H → Y in CMT; associated with F-113. Ref.57

VAR_031888

Natural variant

82

1

Y → C in CMT1B and DSS. Ref.17 Ref.36 Ref.54 Ref.55

VAR_004514

Natural variant

89

1

I → N in CMT2I; patient carrying also Met-92 and Met-162. Ref.54

VAR_015974

Natural variant

90

1

D → E in CMT1B. Ref.18

VAR_004515

Natural variant

92

1

V → M in CMT2I; patient carrying also Asn-89 and Met-162. Ref.54

VAR_015975

Natural variant

93

1

G → E in CMT1B. Ref.29 Ref.59

VAR_004516

Natural variant

96

1

K → E in CMT1B. Ref.18 Ref.19

VAR_004517

Natural variant

97

1

E → V in CMT2J. Ref.68

VAR_029975

Natural variant

98

1

R → C in CMT1B; severe and DSS. Ref.27 Ref.28 Ref.30 Ref.50 Ref.59

VAR_004518

Natural variant

98

1

R → H in CMT1B. Ref.2 Ref.27 Ref.47 Ref.51 Ref.56 Ref.64

VAR_004519

Natural variant

98

1

R → P in CMT1B.

VAR_004520

Natural variant

98

1

R → S in CMT1B. Ref.28

VAR_004521

Natural variant

99

1

I → T in CMT1B.

VAR_004522

Natural variant

101

1

W → C in CMT1B. Ref.23

VAR_004523

Natural variant

103

1

G → E in CMT1B. Ref.53

VAR_015976

Natural variant

109

1

D → N in CMT1B. Ref.44

VAR_031889

Natural variant

110

1

G → D in DSS. Ref.60

VAR_029976

Natural variant

112

1

I → T in CMT1B; severe. Ref.35

VAR_004524

Natural variant

113

1

V → F in CMT; unclassified; associated with Y-81. Ref.57

VAR_031890

Natural variant

113

1

V → I in CMT2. Ref.55

VAR_029977

Natural variant

114

1

I → T in DSS; associated on the same allele as His-116 and Asn-128 in one patient. Ref.32

VAR_004525

Natural variant

116

1

N → H in DSS; associated on the same allele as Thr-114 and Asn-128 in one patient. Ref.32

VAR_004526

Natural variant

118

1

D → DFY in DSS.

VAR_004527

Natural variant

118

1

D → N in CMT2I. Ref.66

VAR_021609

Natural variant

119

1

Y → C in CMT2; unclassified. Ref.46

VAR_031891

Natural variant

122

1

N → S in CMT1B; loss of glycosylation site. Ref.26

VAR_004528

Natural variant

123

1

G → C in DSS and CMT1B. Ref.54 Ref.64

VAR_015977

Natural variant

124 – 125

2

Missing in DSS.

VAR_004530

Natural variant

124

1

T → K in CHN. Ref.67

VAR_029978

Natural variant

124

1

T → M in CMT1B and CMT2J; CMTJ2 patients present Adie pupil; slightly reduces intercellular adhesion; does not affect targeting to the cell membrane; affects glycosylation. Ref.34 Ref.39 Ref.41 Ref.48 Ref.49 Ref.50 Ref.55 Ref.59 Ref.70 Ref.71 Ref.73

VAR_004529

Natural variant

127

1

C → Y in DSS.

VAR_004531

Natural variant

128

1

D → E in CMT1B.

VAR_004532

Natural variant

128

1

D → N in DSS; associated on the same allele as Thr-114 and His-116 in one patient. Ref.32

VAR_004533

Natural variant

130

1

K → R in CMT1B and DSS. Ref.27 Ref.48 Ref.59 Ref.64

VAR_004534

Natural variant

131

1

N → K in ROULS. Ref.38

VAR_015978

Natural variant

132

1

P → L in CMT1B; moderate. Ref.35

VAR_004535

Natural variant

134

1

D → E in CMT1B. Ref.10 Ref.47

VAR_004536

Natural variant

134

1

D → G in CMT1B. Ref.47

VAR_029979

Natural variant

134

1

D → N in CMT1B. Ref.21

VAR_004537

Natural variant

135

1

I → L in CMT1B and DSS. Ref.27

VAR_004538

Natural variant

135

1

I → T in CMT1B. Ref.25 Ref.47

VAR_004539

Natural variant

136

1

V → E in DSS. Ref.54

VAR_015979

Natural variant

137

1

G → S in CMT1B. Ref.25

VAR_004540

Natural variant

138

1

K → N in CMT1B. Ref.47

VAR_029980

Natural variant

139

1

T → N in CMT1B. Ref.47

VAR_029981

Natural variant

140

1

S → T in CMT1B. Ref.58 Ref.64

VAR_029982

Natural variant

143

1

T → M in CMT1B.

VAR_004541

Natural variant

145

1

Y → S in CMT1B. Ref.62

VAR_029983

Natural variant

146

1

V → F in CMT1B. Ref.59

VAR_029984

Natural variant

162

1

I → M in CMT2I; patient carrying also Asn-89 and Met-92. Ref.54

VAR_015980

Natural variant

163

1

G → R in CMT1B. Ref.55 Ref.58

VAR_004542

Natural variant

167

1

G → A in CMT1B and DSS; severe. Ref.35

VAR_004543

Natural variant

167

1

G → R in DSS and CMT. Ref.20 Ref.59

VAR_004544

Natural variant

170

1

L → R in CMT1B. Ref.55

VAR_029985

Natural variant

216

1

T → ER in CMT1B; referred to as 'T216ER'.

VAR_029986

Natural variant

221

1

A → T in DSS. Ref.52

VAR_031892

Natural variant

224

1

D → Y in CMT1B; also in two asymptomatic individuals from the same family. Ref.69

VAR_054397

Natural variant

227

1

R → S in CMT1B. Ref.64

VAR_054398

Natural variant

236

1

K → E in CMT2I. Ref.66

VAR_021610

Natural variant

236

1

Missing in CMT1B. Ref.58

VAR_029987

Natural variant

244

1

R → L.

VAR_004545

Secondary structure

1

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

248

Helix Strand Turn

Details...

Beta strand

36 – 41

6

Beta strand

46 – 48

3

Beta strand

63 – 70

8

Beta strand

77 – 83

7

Beta strand

86 – 89

4

Turn

94 – 98

5

Beta strand

99 – 101

3

Helix

105 – 107

3

Beta strand

112 – 114

3

Helix

119 – 121

3

Beta strand

123 – 131

9

Beta strand

134 – 148

15

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 1, 1992. Version 1. Checksum: A93F4744DACB0D5E	FASTA	248	27,555
	10 20 30 40 50 60 MAPGAPSSSP SPILAVLLFS SLVLSPAQAI VVYTDREVHG AVGSRVTLHC SFWSSEWVSD 70 80 90 100 110 120 DISFTWRYQP EGGRDAISIF HYAKGQPYID EVGTFKERIQ WVGDPRWKDG SIVIHNLDYS 130 140 150 160 170 180 DNGTFTCDVK NPPDIVGKTS QVTLYVFEKV PTRYGVVLGA VIGGVLGVVL LLLLLFYVVR 190 200 210 220 230 240 YCWLRRQAAL QRRLSAMEKG KLHKPGKDAS KRGRQTPVLY AMLDHSRSTK AVSEKKAKGL GESRKDKK
	Isoform L-MPZ [UniParc]. Checksum: 04FA6B8C665820CB	FASTA	311	34,387
	10 20 30 40 50 60 MAPGAPSSSP SPILAVLLFS SLVLSPAQAI VVYTDREVHG AVGSRVTLHC SFWSSEWVSD 70 80 90 100 110 120 DISFTWRYQP EGGRDAISIF HYAKGQPYID EVGTFKERIQ WVGDPRWKDG SIVIHNLDYS 130 140 150 160 170 180 DNGTFTCDVK NPPDIVGKTS QVTLYVFEKV PTRYGVVLGA VIGGVLGVVL LLLLLFYVVR 190 200 210 220 230 240 YCWLRRQAAL QRRLSAMEKG KLHKPGKDAS KRGRQTPVLY AMLDHSRSTK AVSEKKAKGL 250 260 270 280 290 300 GESRKDKKRL AGRAGDRGLG VESAKGPKVM VIEMELRKDE QSPELRPAVK SPSRTSLKNA 310 LKNMMGLNSD K

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Isolation and sequence determination of cDNA encoding the major structural protein of human peripheral myelin." Hayasaka K., Nanao K., Tahara M., Sato W., Takada G., Miura M., Uyemura K. Biochem. Biophys. Res. Commun. 180:515-518(1991) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Fetal spinal cord.
[2]	"Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1." Hayasaka K., Ohnishi A., Takada G., Fukushima Y., Murai Y. Biochem. Biophys. Res. Commun. 194:1317-1322(1993) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), VARIANT CMT1B HIS-98. Tissue: Spinal cord.
[3]	"The major peripheral myelin protein zero gene: structure and localization in the cluster of Fc gamma receptor genes on human chromosome 1q21.3-q23." Pham-Dinh D., Fourbil Y., Blanquet F., Mattei M.-G., Roeckel N., Latour P., Chazot G., Vandenberghe A., Dautigny A. Hum. Mol. Genet. 2:2051-2054(1993) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[4]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Pericardium.
[5]	"Cloning of human full-length CDSs in BD Creator(TM) system donor vector." Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A. Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[6]	"The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R. Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Skin.
[9]	"Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B." Kulkens T., Bolhuis P.A., Wolterman R.A., Kemp S., Te Nijenhuis S., Valentijn L.J., Hensels G.W., Jennekens F.G., de Visser M., Hoogendijk J.E., Baas F. Nat. Genet. 5:35-39(1993) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-115 (ISOFORM 1), VARIANT CMT1B SER-63 DEL.
[10]	"Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B." Nelis E., Timmerman V., De Jonghe P., Muylle L., Martin J.-J., Van Broeckhoven C. J. Med. Genet. 31:811-815(1994) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 24-248, VARIANT CMT1B GLU-134.
[11]	"L-MPZ, a novel isoform of myelin P0, is produced by stop codon readthrough." Yamaguchi Y., Hayashi A., Campagnoni C.W., Kimura A., Inuzuka T., Baba H. J. Biol. Chem. 287:17765-17776(2012) [PubMed] [Europe PMC] [Abstract] Cited for: PARTIAL PROTEIN SEQUENCE (ISOFORM L-MPZ), ALTERNATIVE SPLICING, SUBCELLULAR LOCATION (ISOFORM L-MPZ). Tissue: PNS.
[12]	"Molecular genetics of Charcot-Marie-Tooth neuropathy." Roa B.B., Lupski J.R. Adv. Hum. Genet. 22:117-152(1994) [PubMed] [Europe PMC] [Abstract] Cited for: REVIEW ON CMT1B VARIANTS.
[13]	"Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease." Patel P.I., Lupski J.R. Trends Genet. 10:128-133(1994) [PubMed] [Europe PMC] [Abstract] Cited for: REVIEW ON CMT1B VARIANTS.
[14]	"Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies." Nelis E., Haites N., van Broeckhoven C. Hum. Mutat. 13:11-28(1999) [PubMed] [Europe PMC] [Abstract] Cited for: REVIEW ON CMT1B AND DSS VARIANTS.
[15]	"Crystal structure of the extracellular domain of human myelin protein zero." Liu Z., Wang Y., Yedidi R.S., Brunzelle J.S., Kovari I.A., Sohi J., Kamholz J., Kovari L.C. Proteins 80:307-313(2012) [PubMed] [Europe PMC] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (2.1 ANGSTROMS) OF 30-150, SUBUNIT, DISULFIDE BOND.
[16]	"Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1B." Hayasaka K., Takada G., Ionasescu V.V. Hum. Mol. Genet. 2:1369-1372(1993) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CMT1B MET-30.
[17]	"New mutation of the myelin P0 gene in a pedigree of Charcot-Marie-Tooth neuropathy 1." Himoro M., Yoshikawa H., Matsui T., Mitsui Y., Takahashi M., Kaido M., Nishimura T., Sawaishi Y., Takada G., Hayasaka K. Biochem. Mol. Biol. Int. 31:169-173(1993) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CMT1B CYS-82.
[18]	"Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene." Hayasaka K., Himoro M., Sato W., Takada G., Uyemura K., Shimizu N., Bird T.D., Conneally P.M., Chance P.F. Nat. Genet. 5:31-34(1993) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CMT1B GLU-90 AND GLU-96.
[19]	"Myelin protein zero gene mutated in Charcot-Marie-Tooth type 1B patients." Su Y., Brooks D.G., Li L., Lepercq J., Trofatter J.A., Ravetch J.V., Lebo R.V. Proc. Natl. Acad. Sci. U.S.A. 90:10856-10860(1993) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CMT1B GLU-96 AND 216-THR DELINS GLU-ARG.
[20]	"De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III)." Hayasaka K., Himoro M., Sawaishi Y., Nanao K., Takahashi T., Takada G., Nicholson G.A., Ouvrier R.A., Tachi N. Nat. Genet. 5:266-268(1993) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS DSS CYS-63 AND ARG-167.
[21]	"Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene." Nelis E., Timmerman V., de Jonghe P., Vandenberghe A., Pham-Dinh D., Dautigny A., Martin J.-J., van Broeckhoven C. Hum. Genet. 94:653-657(1994) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CMT1B LEU-78 AND ASN-134.
[22]	"Charcot-Marie-Tooth type 1B neuropathy: third mutation of serine 63 codon in the major peripheral myelin glycoprotein PO gene." Blanquet-Grossard F., Pham-Dinh D., Dautigny A., Latour P., Bonnebouche C., Corbillon E., Chazot G., Vandenberghe A. Clin. Genet. 48:281-283(1995) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CMT1B PHE-63.
[23]	"Mutations in the myelin protein zero gene associated with Charcot-Marie-Tooth disease type 1B." Latour P., Blanquet F., Nelis E., Bonnebouche C., Chapon F., Diraison P., Ollagnon E., Dautigny A., Pham-Dinh D., Chazot G., Boucherat M., van Broeckhoven C., Vandenberghe A. Hum. Mutat. 6:50-54(1995) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CMT1B LEU-78 AND CYS-101.
[24]	"A novel homozygous mutation of the myelin Po gene producing Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III)." Ikegami T., Nicholson G.A., Ikeda H., Ishida A., Johnston H., Wise G., Ouvrier R.A., Hayasaka K. Biochem. Biophys. Res. Commun. 222:107-110(1996) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT DSS PHE-64 DEL.
[25]	"Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease." Roa B.B., Warner L.E., Garcia C.A., Russo D., Lovelace R., Chance P.F., Lupski J.R. Hum. Mutat. 7:36-45(1996) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CMT1B THR-135 AND SER-137.
[26]	"Charcot-Marie-Tooth type 1B neuropathy: a mutation at the single glycosylation site in the major peripheral myelin glycoprotein Po." Blanquet-Grossard F., Pham-Dinh D., Dautigny A., Latour P., Bonnebouche C., Diraison P., Chapon F., Chazot G., Vandenberghe A. Hum. Mutat. 8:185-186(1996) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CMT1B SER-122.
[27]	"Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease." Gabreeels-Festen A.A.W.M., Hoogendijk J.E., Meijerink P.H., Gabreeels F.J.M., Bolhuis P.A., van Beersum S., Kulkens T., Nelis E., Jennekens F.G., de Visser M., van Engelen B.G., van Broeckhoven C., Mariman E.C. Neurology 47:761-765(1996) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CMT1B/DSS ILE-34; CYS-98; HIS-98; ARG-130 AND LEU-135.
[28]	"Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination." Warner L.E., Hilz M.J., Appel S.H., Killian J.M., Kolodry E.H., Karpati G., Carpenter S., Watters G.V., Wheeler C., Witt D., Bodell A., Nelis E., van Broeckhoven C., Lupski J.R. Neuron 17:451-460(1996) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CMT1B CYS-98 AND SER-98, VARIANT DSS CYS-98.
[29]	"Novel mutation of the myelin Po gene in a pedigree with Charcot-Marie-Tooth disease type 1B." Ikegami T., Ikeda H., Mitsui T., Hayasaka K., Ishii S. Am. J. Med. Genet. 71:246-248(1997) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CMT1B GLU-93.
[30]	"Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies." Bort S., Nelis E., Timmerman V., Sevilla T., Cruz-Martinez A., Martinez F., Millan J.M., Arpa J., Vilchez J.J., Prieto F., van Broeckhoven C., Palau F. Hum. Genet. 99:746-754(1997) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CMT1B LEU-78, VARIANT DSS CYS-98.
[31]	"Novel mutation of the myelin P0 gene in a CMT1B family." Sorour E., Macmillan J., Upadhyaya M. Hum. Mutat. 9:74-77(1997) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CMT1B ARG-81.
[32]	"Multiple de novo MPZ (P0) point mutations in a sporadic Dejerine-Sottas case." Warner L.E., Shohat M., Shorer Z., Lupski J.R. Hum. Mutat. 10:21-24(1997) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS DSS THR-114; HIS-116 AND ASN-128.
[33]	"De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III): two amino acid insertion after Asp 118." Ikegami T., Nicholson G.A., Ikeda H., Ishida A., Johnston H., Wise G., Ouvrier R.A., Hayasaka K. Hum. Mutat. Suppl. 1:S103-S105(1998) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT DSS PHE-TYR-118 INS.
[34]	"Mutations of the same sequence of the myelin P0 gene causing two different phenotypes." Schiavon F., Rampazzo A., Merlini L., Angelini C., Mostacciuolo M.L. Hum. Mutat. Suppl. 1:S217-S219(1998) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CMT1B MET-124, VARIANT DSS 124-THR-PHE-125 DEL.
[35]	"Mutation analysis in Charcot-Marie-Tooth disease type 1 (CMT1)." Sorour E., Upadhyaya M. Hum. Mutat. Suppl. 1:S242-S247(1998) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CMT1B PHE-58; CYS-68; THR-112; LEU-132 AND ALA-167.
[36]	"Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies." Silander K., Meretoja P., Juvonen V., Ignatius J., Pihko H., Saarinen A., Wallden T., Herrgaard E., Aula P., Savontaus M.-L. Hum. Mutat. 12:59-68(1998) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CMT1B LEU-78, VARIANT DSS CYS-82.
[37]	"Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene." Marrosu M.G., Vaccargiu S., Marrosu G., Vannelli A., Cianchetti C., Muntoni F. Neurology 50:1397-1401(1998) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CMT2I PHE-44.
[38]	"The Roussy-Levy family: from the original description to the gene." Plante-Bordeneuve V., Guiochon-Mantel A., Lacroix C., Lapresle J., Said G. Ann. Neurol. 46:770-773(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT ROULS LYS-131.
[39]	"The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype." De Jonghe P., Timmerman V., Ceuterick C., Nelis E., De Vriendt E., Lofgren A., Vercruyssen A., Verellen C., Van Maldergem L., Martin J.-J., Van Broeckhoven C. Brain 122:281-290(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CMT2J MET-124.
[40]	"Novel mutations of the myelin P0 gene in two Charcot-Marie-Tooth type 1 patients from Turkey." Bissar-Tadmouri N., Latour P., Gulsen-Parman Y., Deymeer F., Serdaroglu P., Ozdemir C., Vandenberghe A. Eur. J. Hum. Genet. Suppl. 7:116-116(1999) Cited for: VARIANT CMT1B PRO-54.
[41]	"Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene." Chapon F., Latour P., Diraison P., Schaeffer S., Vandenberghe A. J. Neurol. Neurosurg. Psych. 66:779-782(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CMT2 MET-124.
[42]	"Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy." Mastaglia F.L., Nowak K.J., Stell R., Phillips B.A., Edmondston J.E., Dorosz S.M., Wilton S.D., Hallmayer J., Kakulas B.A., Laing N.G. J. Neurol. Neurosurg. Psych. 67:174-179(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CMTDID TYR-35.
[43]	"A novel MPZ gene mutation in dominantly inherited neuropathy with focally folded myelin sheaths." Nakagawa M., Suehara M., Saito A., Takashima H., Umehara F., Saito M., Kanzato N., Matsuzaki T., Takenaga S., Sakoda S., Izumo S., Osame M. Neurology 52:1271-1275(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CMT1B PHE-62.
[44]	"Peripheral myelin modification in CMT1B correlates with MPZ gene mutations." Lagueny A., Latour P., Vital A., Rajabally Y., Le Masson G., Ferrer X., Bernard I., Julien J., Vital C., Vandenberghe A. Neuromuscul. Disord. 9:361-367(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CMT1B ASN-109.
[45]	"Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero." Fabrizi G.M., Taioli F., Cavallaro T., Rigatelli F., Simonati A., Mariani G., Perrone P., Rizzuto N. Acta Neuropathol. 100:299-304(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CMT1B LEU-78.
[46]	"Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible 'hotspot' on Thr124Met." Senderek J., Hermanns B., Lehmann U., Bergmann C., Marx G., Kabus C., Timmerman V., Stoltenburg-Didinger G., Schroder J.M. Brain Pathol. 10:235-248(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CMT2 GLY-61 AND CYS-119.
[47]	"Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients." Mersiyanova I.V., Ismailov S.M., Polyakov A.V., Dadali E.L., Fedotov V.P., Nelis E., Loefgren A., Timmerman V., Van Broeckhoven C., Evgrafov O.V. Hum. Mutat. 15:340-347(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CMT1B HIS-98; GLY-134; GLU-134; THR-135; ASN-138 AND ASN-139.
[48]	"Mutations in the peripheral myelin protein zero and connexin32 genes detected by non-isotopic RNase cleavage assay and their phenotypes in Japanese patients with Charcot-Marie-Tooth disease." Yoshihara T., Yamamoto M., Doyu M., Misu K., Hattori N., Hasegawa Y., Mokuno K., Mitsuma T., Sobue G. Hum. Mutat. 16:177-178(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CMT PHE-32; CYS-68; MET-124 AND ARG-130.
[49]	"An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val)." Misu K., Yoshihara T., Shikama Y., Awaki E., Yamamoto M., Hattori N., Hirayama M., Takegami T., Nakashima K., Sobue G. J. Neurol. Neurosurg. Psych. 69:806-811(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CMT2J VAL-75 AND MET-124.
[50]	"Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: mutation analysis in a large cohort of Italian families." Mostacciuolo M.L., Righetti E., Zortea M., Bosello V., Schiavon F., Vallo L., Merlini L., Siciliano G., Fabrizi G.M., Rizzuto N., Milani M., Baratta S., Taroni F. Hum. Mutat. 18:32-41(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CMT1B PHE-63 AND MET-124, VARIANTS DSS CYS-98 AND 124-THR-PHE-125 DEL.
[51]	"Mutation analysis in Chariot-Marie Tooth disease type 1: point mutations in the MPZ gene and the GJB1 gene cause comparable phenotypic heterogeneity." Young P., Grote K., Kuhlenbaeumer G., Debus O., Kurlemann H., Halfter H., Funke H., Ringelstein E.B., Stoegbauer F. J. Neurol. 248:410-415(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CMT1B PHE-51; LEU-78 AND HIS-98.
[52]	"The range of chronic demyelinating neuropathy of infancy: a clinico-pathological and genetic study of 15 unrelated cases." Plante-Bordeneuve V., Parman Y., Guiochon-Mantel A., Alj Y., Deymeer F., Serdaroglu P., Eraksoy M., Said G. J. Neurol. 248:795-803(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS DSS VAL-42 DEL AND THR-221.
[53]	"A somatic and germline mosaic mutation in MPZ/P(0) mimics recessive inheritance of CMT1B." Fabrizi G.M., Ferrarini M., Cavallaro T., Jarre L., Polo A., Rizzuto N. Neurology 57:101-105(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CMT1B GLU-103.
[54]	"Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation." Boerkoel C.F., Takashima H., Garcia C.A., Olney R.K., Johnson J., Berry K., Russo P., Kennedy S., Teebi A.S., Scavina M., Williams L.L., Mancias P., Butler I.J., Krajewski K., Shy M., Lupski J.R. Ann. Neurol. 51:190-201(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CMT1B LEU-78 AND CYS-82, VARIANTS CMT2I ASN-89; MET-92 AND MET-162, VARIANTS DSS CYS-123 AND GLU-136.
[55]	"Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations." Numakura C., Lin C., Ikegami T., Guldberg P., Hayasaka K. Hum. Mutat. 20:392-398(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CMT1B SER-63 DEL; ILE-65; CYS-68; CYS-82; MET-124; ARG-163 AND ARG-170, VARIANTS CMT2 VAL-75 AND ILE-113.
[56]	"Corticosteroid-responsive asymmetric neuropathy with a myelin protein zero gene mutation." Watanabe M., Yamamoto N., Ohkoshi N., Nagata H., Kohno Y., Hayashi A., Tamaoka A., Shoji S. Neurology 59:767-769(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CMT1B HIS-98.
[57]	"Two amino-acid substitutions in the myelin protein zero gene of a case of Charcot-Marie-Tooth disease associated with light-near dissociation." Bienfait H.M.E., Baas F., Gabreeels-Festen A.A.W.M., Koelman J.H.T.M., Langerhorst C.T., de Visser M. Neuromuscul. Disord. 12:281-285(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CMT TYR-81 AND PHE-113.
[58]	"Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes." Street V.A., Meekins G., Lipe H.P., Seltzer W.K., Carter G.T., Kraft G.H., Bird T.D. Neuromuscul. Disord. 12:643-650(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CMT1B THR-140; ARG-163 AND LYS-236 DEL.
[59]	"Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients." The study group for hereditary neuropathy in Japan Hattori N., Yamamoto M., Yoshihara T., Koike H., Nakagawa M., Yoshikawa H., Ohnishi A., Hayasaka K., Onodera O., Baba M., Yasuda H., Saito T., Nakashima K., Kira J., Kaji R., Oka N., Sobue G. Brain 126:134-151(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CMT TYR-35; PHE-62; SER-63 DEL; CYS-68; VAL-75; ARG-81; GLU-93; CYS-98; MET-124; ARG-130; PHE-146 AND ARG-167.
[60]	"Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1." Huehne K., Benes V., Thiel C., Kraus C., Kress W., Hoeltzenbein M., Ploner C.J., Kotzian J., Reis A., Rott H.D., Rautenstrauss B.W. Hum. Mutat. 21:100-100(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CMT1B LEU-78, VARIANT DSS ASP-110.
[61]	"Clinical and genetic analysis of CMT1B in a Nigerian family." Kakar R., Ma W., Dutra A., Seltzer W.K., Grewal R.P. Muscle Nerve 27:628-630(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CMT1B TRP-78.
[62]	"Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin protein zero (MPZ, P0) gene causes different phenotypes in homozygous and heterozygous carriers within one family." Leal A., Berghoff C., Berghoff M., Del Valle G., Contreras C., Montoya O., Hernandez E., Barrantes R., Schloetzer-Schrehardt U., Neundoerfer B., Reis A., Rautenstrauss B., Heuss D. Neurogenetics 4:191-197(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CMT1B SER-145.
[63]	"Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene." Auer-Grumbach M., Strasser-Fuchs S., Robl T., Windpassinger C., Wagner K. Neurology 61:1435-1437(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CMT2I HIS-60 AND MET-62.
[64]	"Phenotypic clustering in MPZ mutations." Shy M.E., Jani A., Krajewski K., Grandis M., Lewis R.A., Li J., Shy R.R., Balsamo J., Lilien J., Garbern J.Y., Kamholz J. Brain 127:371-384(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CMT1B PRO-39; PHE-44; CYS-50 DEL; HIS-98; CYS-123; ARG-130; THR-140 AND SER-227.
[65]	"An axonal form of Charcot-Marie-Tooth disease with a novel missense mutation in the myelin protein zero gene." Kochanski A., Kabzinska D., Nowakowski A., Drac H., Hausmanowa-Petrusewicz I. J. Peripher. Nerv. Syst. 9:1-2(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CMT2 LYS-56.
[66]	"Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients." Choi B.-O., Lee M.S., Shin S.H., Hwang J.H., Choi K.-G., Kim W.-K., Sunwoo I.N., Kim N.K., Chung K.W. Hum. Mutat. 24:185-186(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CMT2I ASN-118 AND GLU-236.
[67]	"A novel MPZ gene mutation in congenital neuropathy with hypomyelination." Kochanski A., Drac H., Kabzinska D., Ryniewicz B., Rowinska-Marcinska K., Nowakowski A., Hausmanowa-Petrusewicz I. Neurology 62:2122-2123(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CHN LYS-124.
[68]	"Hearing loss as the first feature of late-onset axonal CMT disease due to a novel P0 mutation." Seeman P., Mazanec R., Huehne K., Suslikova P., Keller O., Rautenstrauss B. Neurology 63:733-735(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CMT2J VAL-97.
[69]	"Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B." Fabrizi G.M., Pellegrini M., Angiari C., Cavallaro T., Morini A., Taioli F., Cabrini I., Orrico D., Rizzuto N. Neuromuscul. Disord. 16:183-187(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CMT1B TYR-224.
[70]	"Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations." Grandis M., Vigo T., Passalacqua M., Jain M., Scazzola S., La Padula V., Brucal M., Benvenuto F., Nobbio L., Cadoni A., Mancardi G.L., Kamholz J., Shy M.E., Schenone A. Hum. Mol. Genet. 17:1877-1889(2008) [PubMed] [Europe PMC] [Abstract] Cited for: CHARACTERIZATION OF VARIANTS CMT1B 51-SER--TRP-57 DEL; PRO-39; ARG-81 AND MET-124.
[71]	"Chronic cough due to Thr124Met mutation in the peripheral myelin protein zero (MPZ gene)." Baloh R.H., Jen J.C., Kim G., Baloh R.W. Neurology 62:1905-1906(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CMT2 MET-124.
[72]	"A novel mutation, Thr65Ala, in the MPZ gene in a patient with Charcot-Marie-Tooth type 1B disease with focally folded myelin." Kochanski A., Drac H., Kabzinska D., Hausmanowa-Petrusewicz I. Neuromuscul. Disord. 14:229-232(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CMT1B ALA-65.
[73]	"Case records of the Massachusetts General Hospital. Case 18-2006. A 57-year-old woman with numbness and weakness of the feet and legs." Triggs W.J., Brown R.H. Jr., Menkes D.L. N. Engl. J. Med. 354:2584-2592(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CMT2J MET-124, INVOLVEMENT IN ADIE PUPIL.
+	Additional computationally mapped references.

Web resources

Inherited peripheral neuropathies mutation db

GeneReviews

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

D10537 mRNA. Translation: BAA01395.1.
D14720 Genomic DNA. Translation: BAA03540.1. Different initiation.
L24893, L24894 Genomic DNA. Translation: AAA20656.1.
AK313555 mRNA. Translation: BAG36330.1. Different initiation.
BT006765 mRNA. Translation: AAP35411.1. Different initiation.
AL592295 Genomic DNA. Translation: CAH70270.1. Different initiation.
CH471121 Genomic DNA. Translation: EAW52606.1. Different initiation.
BC006491 mRNA. Translation: AAH06491.1. Different initiation.
S66705 mRNA. Translation: AAB28708.1.
U10018, U10017 Genomic DNA. Translation: AAA18981.1.

IPI

IPI00478921.

PIR

JH0252.

RefSeq

NP_000521.2. NM_000530.6.

UniGene

Hs.591486.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1N2P	model	-	A	1-248	[»]
3OAI	X-ray	2.10	A/B	30-150	[»]

ProteinModelPortal

P25189.

ModBase

Search...

Protein-protein interaction databases

IntAct

P25189. 3 interactions.

MINT

MINT-1390651.

STRING

9606.ENSP00000353634.

PTM databases

PhosphoSite

P25189.

Polymorphism databases

DMDM

127721.

Proteomic databases

PaxDb

P25189.

PRIDE

P25189.

Protocols and materials databases

DNASU

4359.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000360451; ENSP00000353634; ENSG00000158887.
ENST00000463290; ENSP00000431538; ENSG00000158887.
ENST00000533357; ENSP00000432943; ENSG00000158887.

GeneID

4359.

KEGG

hsa:4359.

UCSC

uc001gaf.4. human.

Organism-specific databases

CTD

4359.

GeneCards

GC01M161274.

HGNC

HGNC:7225. MPZ.

MIM

103100. phenotype.
118200. phenotype.
145900. phenotype.
159440. gene.
180800. phenotype.
605253. phenotype.
607677. phenotype.
607736. phenotype.
607791. phenotype.

neXtProt

NX_P25189.

Orphanet

99942. Autosomal dominant Charcot-Marie-Tooth disease type 2I.
99943. Autosomal dominant Charcot-Marie-Tooth disease type 2J.
100046. Autosomal dominant intermediate Charcot-Marie-Tooth disease type D.
101082. Charcot-Marie-Tooth disease type 1B.
64748. Dejerine-Sottas syndrome.
3115. Roussy-Levy syndrome.

PharmGKB

PA30930.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG47065.

HOGENOM

HOG000232144.

HOVERGEN

HBG096384.

InParanoid

P25189.

KO

K06770.

OrthoDB

EOG4GTKFB.

Gene expression databases

ArrayExpress

P25189.

Bgee

P25189.

CleanEx

HS_MPZ.

Genevestigator

P25189.

GermOnline

ENSG00000158887. Homo sapiens.

Family and domain databases

Gene3D

2.60.40.10. 1 hit.

InterPro

IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR013106. Ig_V-set.
IPR003596. Ig_V-set_subgr.
IPR019566. Myelin-PO_C.
IPR000920. Myelin_P0.
IPR019738. Myelin_P0_CS.
[Graphical view]

Pfam

PF10570. Myelin-PO_C. 1 hit.
PF07686. V-set. 1 hit.
[Graphical view]

PRINTS

PR00213. MYELINP0.

SMART

SM00406. IGv. 1 hit.
[Graphical view]

PROSITE

PS50835. IG_LIKE. 1 hit.
PS00568. MYELIN_P0. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

GenomeRNAi

4359.

NextBio

17155.

SOURCE

Search...

Entry information

Entry name

MYP0_HUMAN

Accession

Primary (citable) accession number: P25189
Secondary accession number(s): Q16072 , Q5VTH4, Q92677, Q9BR67

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 1, 1992
Last sequence update:	May 1, 1992
Last modified:	May 1, 2013
This is version 157 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.