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P25189 (MYP0_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 167. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Myelin protein P0
Alternative name(s):
Myelin peripheral protein
Short name=MPP
Myelin protein zero
Gene names
Name:MPZ
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length248 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence 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 degeneration 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 degeneration 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

Neuropathy, congenital hypomyelinating or amyelinating (CHN) [MIM:605253]: A severe degenerating neuropathy that results from a congenital impairment in myelin formation. It is clinically characterized by early onset of hypotonia, areflexia, distal muscle weakness, and very slow nerve conduction velocities (as low as 3m/s). Some patients manifest nearly complete absence of spontaneous limb movements, respiratory distress at birth, and complete absence of myelin shown by electron microscopy of peripheral nerves. 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.

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2929
Chain30 – 248219Myelin protein P0
PRO_0000019300

Regions

Topological domain30 – 153124Extracellular Potential
Transmembrane154 – 17926Helical; Potential
Topological domain180 – 24869Cytoplasmic Potential
Domain30 – 143114Ig-like V-type

Amino acid modifications

Modified residue2101Phosphoserine; by PKC By similarity
Modified residue2261Phosphoserine By similarity
Modified residue2281Phosphoserine By similarity
Modified residue2331Phosphoserine; by PKC By similarity
Modified residue2431Phosphoserine; by PKC By similarity
Glycosylation1221N-linked (GlcNAc...) (complex) By similarity
Disulfide bond50 ↔ 127 Ref.15

Natural variations

Alternative sequence2481K → KRLAGRAGDRGLGVESAKGP KVMVIEMELRKDEQSPELRP AVKSPSRTSLKNALKNMMGL NSDK in isoform L-MPZ.
VSP_045844
Natural variant301I → M in CMT1B. Ref.16
VAR_004500
Natural variant321V → F in CMT1B; severe. Ref.48
VAR_004501
Natural variant341T → I in CMT1B. Ref.27
VAR_004502
Natural variant351D → Y in CMTDID. Ref.42 Ref.59
VAR_015971
Natural variant391H → P in CMT1B; slightly reduces intercellular adhesion; does not affect targeting to the cell membrane. Ref.64 Ref.70
VAR_054393
Natural variant421Missing in DSS. Ref.52
VAR_031884
Natural variant441S → F in CMT2I and CMT1B. Ref.37 Ref.64
VAR_004503
Natural variant501Missing in CMT1B. Ref.64
VAR_054394
Natural variant51 – 577Missing in CMT1B; affects targeting to the cell membrane; reduces intercellular adhesion.
VAR_054395
Natural variant511S → F in CMT1B. Ref.51
VAR_029971
Natural variant541S → C in CMT1B; severe.
VAR_004504
Natural variant541S → P in CMT1B. Ref.40
VAR_004505
Natural variant561E → K in CMT2. Ref.65
VAR_054396
Natural variant581V → F in CMT1B; moderate. Ref.35
VAR_004506
Natural variant601D → H in CMT2I. Ref.63
VAR_029972
Natural variant611D → G in CMT2; unclassified. Ref.46
VAR_031885
Natural variant621I → F in CMT1B. Ref.43 Ref.59
VAR_015972
Natural variant621I → M in CMT2I. Ref.63
VAR_029973
Natural variant631S → C in DSS. Ref.20
VAR_004508
Natural variant631S → F in CMT1B. Ref.22 Ref.50
VAR_004509
Natural variant631Missing in CMT1B. Ref.9 Ref.55 Ref.59
VAR_004507
Natural variant641Missing in CMT1B and DSS. Ref.24
VAR_004510
Natural variant651T → A in CMT1B. Ref.72
VAR_031886
Natural variant651T → I in CMT1B. Ref.55
VAR_029974
Natural variant681Y → C in CMT1B; severe/mild. Ref.35 Ref.48 Ref.55 Ref.59
VAR_004511
Natural variant751D → V in CMT2J. Ref.49 Ref.55 Ref.59
VAR_015973
Natural variant781S → L in CMT1B; severe. Ref.21 Ref.23 Ref.30 Ref.36 Ref.45 Ref.51 Ref.54 Ref.60
VAR_004512
Natural variant781S → W in CMT1B. Ref.61
VAR_031887
Natural variant811H → R in CMT1B; severe; reduces intercellular adhesion; does not affect targeting to the cell membrane. Ref.31 Ref.59 Ref.70
VAR_004513
Natural variant811H → Y in CMT; associated with F-113. Ref.57
VAR_031888
Natural variant821Y → C in CMT1B and DSS. Ref.17 Ref.36 Ref.54 Ref.55
VAR_004514
Natural variant891I → N in CMT2I; patient carrying also Met-92 and Met-162. Ref.54
VAR_015974
Natural variant901D → E in CMT1B. Ref.18
VAR_004515
Natural variant921V → M in CMT2I; patient carrying also Asn-89 and Met-162. Ref.54
VAR_015975
Natural variant931G → E in CMT1B. Ref.29 Ref.59
VAR_004516
Natural variant961K → E in CMT1B. Ref.18 Ref.19
VAR_004517
Natural variant971E → V in CMT2J. Ref.68
VAR_029975
Natural variant981R → C in CMT1B; severe and DSS. Ref.27 Ref.28 Ref.30 Ref.50 Ref.59
VAR_004518
Natural variant981R → H in CMT1B. Ref.2 Ref.27 Ref.47 Ref.51 Ref.56 Ref.64
VAR_004519
Natural variant981R → P in CMT1B.
VAR_004520
Natural variant981R → S in CMT1B. Ref.28
VAR_004521
Natural variant991I → T in CMT1B.
VAR_004522
Natural variant1011W → C in CMT1B. Ref.23
VAR_004523
Natural variant1031G → E in CMT1B. Ref.53
VAR_015976
Natural variant1091D → N in CMT1B. Ref.44
VAR_031889
Natural variant1101G → D in DSS. Ref.60
VAR_029976
Natural variant1121I → T in CMT1B; severe. Ref.35
VAR_004524
Natural variant1131V → F in CMT; unclassified; associated with Y-81. Ref.57
VAR_031890
Natural variant1131V → I in CMT2. Ref.55
VAR_029977
Natural variant1141I → T in DSS; associated on the same allele as His-116 and Asn-128 in one patient. Ref.32
VAR_004525
Natural variant1161N → H in DSS; associated on the same allele as Thr-114 and Asn-128 in one patient. Ref.32
VAR_004526
Natural variant1181D → DFY in DSS.
VAR_004527
Natural variant1181D → N in CMT2I. Ref.66
VAR_021609
Natural variant1191Y → C in CMT2; unclassified. Ref.46
VAR_031891
Natural variant1221N → S in CMT1B; loss of glycosylation site. Ref.26
VAR_004528
Natural variant1231G → C in DSS and CMT1B. Ref.54 Ref.64
VAR_015977
Natural variant124 – 1252Missing in DSS.
VAR_004530
Natural variant1241T → K in CHN. Ref.67
VAR_029978
Natural variant1241T → 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 variant1271C → Y in DSS.
VAR_004531
Natural variant1281D → E in CMT1B.
VAR_004532
Natural variant1281D → N in DSS; associated on the same allele as Thr-114 and His-116 in one patient. Ref.32
VAR_004533
Natural variant1301K → R in CMT1B and DSS. Ref.27 Ref.48 Ref.59 Ref.64
VAR_004534
Natural variant1311N → K in ROULS. Ref.38
VAR_015978
Natural variant1321P → L in CMT1B; moderate. Ref.35
VAR_004535
Natural variant1341D → E in CMT1B. Ref.10 Ref.47
VAR_004536
Natural variant1341D → G in CMT1B. Ref.47
VAR_029979
Natural variant1341D → N in CMT1B. Ref.21
VAR_004537
Natural variant1351I → L in CMT1B and DSS. Ref.27
VAR_004538
Natural variant1351I → T in CMT1B. Ref.25 Ref.47
VAR_004539
Natural variant1361V → E in DSS. Ref.54
VAR_015979
Natural variant1371G → S in CMT1B. Ref.25
VAR_004540
Natural variant1381K → N in CMT1B. Ref.47
VAR_029980
Natural variant1391T → N in CMT1B. Ref.47
VAR_029981
Natural variant1401S → T in CMT1B. Ref.58 Ref.64
VAR_029982
Natural variant1431T → M in CMT1B.
VAR_004541
Natural variant1451Y → S in CMT1B. Ref.62
VAR_029983
Natural variant1461V → F in CMT1B. Ref.59
VAR_029984
Natural variant1621I → M in CMT2I; patient carrying also Asn-89 and Met-92. Ref.54
VAR_015980
Natural variant1631G → R in CMT1B. Ref.55 Ref.58
VAR_004542
Natural variant1671G → A in CMT1B and DSS; severe. Ref.35
VAR_004543
Natural variant1671G → R in DSS and CMT. Ref.20 Ref.59
VAR_004544
Natural variant1701L → R in CMT1B. Ref.55
VAR_029985
Natural variant2161T → ER in CMT1B; referred to as 'T216ER'.
VAR_029986
Natural variant2211A → T in DSS. Ref.52
VAR_031892
Natural variant2241D → Y in CMT1B; also in two asymptomatic individuals from the same family. Ref.69
VAR_054397
Natural variant2271R → S in CMT1B. Ref.64
VAR_054398
Natural variant2361K → E in CMT2I. Ref.66
VAR_021610
Natural variant2361Missing in CMT1B. Ref.58
VAR_029987
Natural variant2441R → L.
VAR_004545

Secondary structure

........................ 248
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 1, 1992. Version 1.
Checksum: A93F4744DACB0D5E

FASTA24827,555
        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 

« Hide

Isoform L-MPZ [UniParc].

Checksum: 04FA6B8C665820CB
Show »

FASTA31134,387

References

« Hide '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. expand/collapse author list , 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. expand/collapse author list , 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. expand/collapse author list , 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.

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.
PIRJH0252.
RefSeqNP_000521.2. NM_000530.6.
UniGeneHs.591486.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1N2Pmodel-A1-248[»]
3OAIX-ray2.10A/B30-150[»]
ProteinModelPortalP25189.
SMRP25189. Positions 24-150.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110499. 2 interactions.
IntActP25189. 3 interactions.
MINTMINT-1390651.
STRING9606.ENSP00000353634.

PTM databases

PhosphoSiteP25189.

Polymorphism databases

DMDM127721.

Proteomic databases

PaxDbP25189.
PRIDEP25189.

Protocols and materials databases

DNASU4359.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000360451; ENSP00000353634; ENSG00000158887.
ENST00000463290; ENSP00000431538; ENSG00000158887. [P25189-1]
ENST00000533357; ENSP00000432943; ENSG00000158887. [P25189-1]
GeneID4359.
KEGGhsa:4359.
UCSCuc001gaf.4. human. [P25189-1]

Organism-specific databases

CTD4359.
GeneCardsGC01M161274.
HGNCHGNC:7225. MPZ.
MIM103100. phenotype.
118200. phenotype.
145900. phenotype.
159440. gene.
180800. phenotype.
605253. phenotype.
607677. phenotype.
607736. phenotype.
607791. phenotype.
neXtProtNX_P25189.
Orphanet99942. 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.
324585. Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain.
101082. Charcot-Marie-Tooth disease type 1B.
64748. Dejerine-Sottas syndrome.
3115. Roussy-Levy syndrome.
PharmGKBPA30930.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG47065.
HOGENOMHOG000232144.
HOVERGENHBG096384.
InParanoidP25189.
KOK06770.
OrthoDBEOG7G1V80.
PhylomeDBP25189.
TreeFamTF331728.

Gene expression databases

ArrayExpressP25189.
BgeeP25189.
CleanExHS_MPZ.
GenevestigatorP25189.

Family and domain databases

Gene3D2.60.40.10. 1 hit.
InterProIPR007110. 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]
PfamPF10570. Myelin-PO_C. 1 hit.
PF07686. V-set. 1 hit.
[Graphical view]
PRINTSPR00213. MYELINP0.
SMARTSM00406. IGv. 1 hit.
[Graphical view]
PROSITEPS50835. IG_LIKE. 1 hit.
PS00568. MYELIN_P0. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiMyelin_protein_zero.
GenomeRNAi4359.
NextBio17155.
PROP25189.
SOURCESearch...

Entry information

Entry nameMYP0_HUMAN
AccessionPrimary (citable) accession number: P25189
Secondary accession number(s): Q16072 expand/collapse secondary AC list , Q5VTH4, Q92677, Q9BR67
Entry history
Integrated into UniProtKB/Swiss-Prot: May 1, 1992
Last sequence update: May 1, 1992
Last modified: April 16, 2014
This is version 167 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM