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Q8TB36 (GDAP1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 117. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | 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:
Ganglioside-induced differentiation-associated protein 1

Short name=GDAP1
Gene names
Name:GDAP1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length358 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Regulates the mitochondrial network by promoting mitochondrial fission. Ref.8

Subunit structure

Homodimer. Ref.9

Subcellular location

Mitochondrion outer membrane; Multi-pass membrane protein. Cytoplasm By similarity Ref.7 Ref.8 Ref.9.

Tissue specificity

Highly expressed in whole brain and spinal cord. Predominant expression in central tissues of the nervous system not only in neurons but also in Schwann cells. Ref.6 Ref.8

Involvement in disease

Charcot-Marie-Tooth disease 4A (CMT4A) [MIM:214400]: A recessive 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. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. CMT4A is a severe form characterized by early age of onset and rapid progression leading to inability to walk in late childhood or adolescence.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6 Ref.7 Ref.8 Ref.11 Ref.12 Ref.14 Ref.15

Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive (CMT2RV) [MIM:607706]: A form of Charcot-Marie-Tooth disease characterized by the association of axonal neuropathy with vocal cord paresis. Charcot-Marie-Tooth disease is 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6 Ref.8 Ref.13

Charcot-Marie-Tooth disease 2K (CMT2K) [MIM:607831]: An 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 2K onset is in early childhood (younger than 3 years). This phenotype is characterized by foot deformities, kyphoscoliosis, distal limb muscle weakness and atrophy, areflexia, and diminished sensation in the lower limbs. Weakness in the upper limbs is observed in the first decade, with clawing of the fingers. Inheritance can be autosomal dominant or recessive.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6 Ref.16

Charcot-Marie-Tooth disease, recessive, intermediate type, A (CMTRIA) [MIM:608340]: 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. Recessive intermediate forms of Charcot-Marie-Tooth disease are 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 is caused by mutations affecting the gene represented in this entry. Ref.6

Sequence similarities

Belongs to the GST superfamily.

Contains 1 GST C-terminal domain.

Contains 1 GST N-terminal domain.

Caution

While belonging to the GST superfamily, it lacks glutathione transferase activity.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8TB36-1)

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 2 (identifier: Q8TB36-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-68: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 358358Ganglioside-induced differentiation-associated protein 1
PRO_0000186038

Regions

Transmembrane292 – 31221Helical; Potential
Transmembrane320 – 34021Helical; Potential
Domain24 – 10582GST N-terminal
Domain153 – 309157GST C-terminal
Region320 – 35839Required for mitochondrial localization

Amino acid modifications

Modified residue2031N6-acetyllysine Ref.10

Natural variations

Alternative sequence1 – 6868Missing in isoform 2.
VSP_038393
Natural variant1201R → Q in CMT4A; no effect on mitochondrial localization but impairment in the ability to induce mitochodrial fragmentation. Ref.7 Ref.8 Ref.14
VAR_017184
Natural variant1611R → H in CMT4A; no effect on mitochondrial localization but abolishes mitochondrial fission. Ref.7 Ref.8 Ref.11
VAR_017185
Natural variant2561H → R in CMT2K; recessive form. Ref.16
VAR_067086
Natural variant2821R → C in CMT4A; no effect on mitochondrial localization but impairment in the ability to induce mitochodrial fragmentation. Ref.7 Ref.8 Ref.12 Ref.15
Corresponds to variant rs28937906 [ dbSNP | Ensembl ].
VAR_017186
Natural variant2821R → H in CMT2K; recessive form. Ref.16
VAR_067087
Natural variant3101R → Q in CMT2RV; Abolishes mitochondrial fission. Ref.8 Ref.13
VAR_017187

Experimental info

Mutagenesis1161M → H: Impairment in the ability to induce mitochodrial fragmentation. Ref.8
Mutagenesis1201R → W: No effect on mitochondrial localization. Ref.7
Mutagenesis1571T → P: No effect on mitochondrial localization. Ref.7
Sequence conflict31E → R in CAA76892. Ref.1
Sequence conflict16 – 172AE → GK in CAA76892. Ref.1
Sequence conflict341S → C in BAJ65577. Ref.2
Sequence conflict531E → G in CAA76892. Ref.1
Sequence conflict1331M → I in BAF85261. Ref.3
Sequence conflict2261R → S in BAJ65578. Ref.2
Sequence conflict3511F → L in CAA76892. Ref.1

Sequences

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

Last modified November 24, 2009. Version 3.
Checksum: B1A61EE71918A28F

FASTA35841,346
        10         20         30         40         50         60 
MAERQEEQRG SPPLRAEGKA DAEVKLILYH WTHSFSSQKV RLVIAEKALK CEEHDVSLPL 

        70         80         90        100        110        120 
SEHNEPWFMR LNSTGEVPVL IHGENIICEA TQIIDYLEQT FLDERTPRLM PDKESMYYPR 

       130        140        150        160        170        180 
VQHYRELLDS LPMDAYTHGC ILHPELTVDS MIPAYATTRI RSQIGNTESE LKKLAEENPD 

       190        200        210        220        230        240 
LQEAYIAKQK RLKSKLLDHD NVKYLKKILD ELEKVLDQVE TELQRRNEET PEEGQQPWLC 

       250        260        270        280        290        300 
GESFTLADVS LAVTLHRLKF LGFARRNWGN GKRPNLETYY ERVLKRKTFN KVLGHVNNIL 

       310        320        330        340        350 
ISAVLPTAFR VAKKRAPKVL GTTLVVGLLA GVGYFAFMLF RKRLGSMILA FRPRPNYF 

« Hide

Isoform 2 [UniParc].

Checksum: 904C89ADCE6841D2
Show »

FASTA29033,480

References

« Hide 'large scale' references
[1]"Isolation of 10 differentially expressed cDNAs in differentiated Neuro2a cells induced through controlled expression of the GD3 synthase gene."
Liu H., Nakagawa T., Kanematsu T., Uchida T., Tsuji S.
J. Neurochem. 72:1781-1790(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Brain.
[2]"The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K."
Crimella C., Tonelli A., Airoldi G., Baschirotto C., D'Angelo M.G., Bonato S., Losito L., Trabacca A., Bresolin N., Bassi M.T.
J. Med. Genet. 47:712-716(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Blood.
[3]"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].
Tissue: Testis.
[4]"DNA sequence and analysis of human chromosome 8."
Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T. expand/collapse author list , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"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 2).
Tissue: Melanoma.
[6]"The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease."
Cuesta A., Pedrola L., Sevilla T., Garcia-Planells J., Chumillas M.J., Mayordomo F., LeGuern E., Marin I., Vilchez J.J., Palau F.
Nat. Genet. 30:22-25(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: DISEASE, TISSUE SPECIFICITY.
[7]"GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria."
Pedrola L., Espert A., Wu X., Claramunt R., Shy M.E., Palau F.
Hum. Mol. Genet. 14:1087-1094(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, MUTAGENESIS OF ARG-120 AND THR-157, CHARACTERIZATION OF VARIANTS CMT4A GLN-120; HIS-161 AND CYS-282.
[8]"Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease."
Niemann A., Ruegg M., La Padula V., Schenone A., Suter U.
J. Cell Biol. 170:1067-1078(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY, SUBCELLULAR LOCATION, FUNCTION, MUTAGENESIS OF MET-116, CHARACTERIZATION OF VARIANTS CMT4A GLN-120; HIS-161 AND CYS-282, CHARACTERIZATION OF VARIANT CMT2RV GLN-310.
[9]"Functional characterisation of ganglioside-induced differentiation-associated protein 1 as a glutathione transferase."
Shield A.J., Murray T.P., Board P.G.
Biochem. Biophys. Res. Commun. 347:859-866(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBUNIT, SUBCELLULAR LOCATION, LACK OF GLUTATHIONE TRANSFERASE ACTIVITY.
[10]"Lysine acetylation targets protein complexes and co-regulates major cellular functions."
Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-203, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[11]"Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21."
Baxter R.V., Ben-Othmane K., Rochelle J.M., Stajich J.E., Hulette C., Dew-Knight S., Hentati F., Ben-Hamida M., Bel S., Stenger J.E., Gilbert J.R., Pericak-Vance M.A., Vance J.M.
Nat. Genet. 30:21-22(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMT4A HIS-161.
[12]"Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy."
Nelis E., Erdem S., Van Den Bergh P.Y.K., Belpaire-Dethiou M.-C., Ceuterick C., Van Gerwen V., Cuesta A., Pedrola L., Palau F., Gabreels-Festen A.A.W.M., Verellen C., Tan E., Demirci M., Van Broeckhoven C., De Jonghe P., Topaloglu H., Timmerman V.
Neurology 59:1865-1872(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMT4A CYS-282.
[13]"Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene."
Azzedine H., Ruberg M., Ente D., Gilardeau C., Perie S., Wechsler B., Brice A., LeGuern E., Dubourg O.
Neuromuscul. Disord. 13:341-346(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMT2RV GLN-310.
[14]"CMT4A: identification of a Hispanic GDAP1 founder mutation."
Boerkoel C.F., Takashima H., Nakagawa M., Izumo S., Armstrong D., Butler I., Mancias P., Papasozomenos S.C.H., Stern L.Z., Lupski J.R.
Ann. Neurol. 53:400-405(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMT4A GLN-120.
[15]"Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy."
Senderek J., Bergmann C., Ramaekers V.T., Nelis E., Bernert G., Makowski A., Zuechner S., De Jonghe P., Rudnik-Schoeneborn S., Zerres K., Schroeder J.M.
Brain 126:642-649(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMT4A CYS-282.
[16]"The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan."
Lin K.P., Soong B.W., Yang C.C., Huang L.W., Chang M.H., Lee I.H., Antonellis A., Lee Y.C.
PLoS ONE 6:E29393-E29393(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMT2K ARG-256 AND HIS-282.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
Y17849 mRNA. Translation: CAA76892.1.
AB551556 mRNA. Translation: BAJ65577.1.
AB551557 mRNA. Translation: BAJ65578.1.
AK292572 mRNA. Translation: BAF85261.1.
AC103952 Genomic DNA. No translation available.
BC024939 mRNA. Translation: AAH24939.1.
CCDSCCDS34911.1. [Q8TB36-1]
CCDS47877.1. [Q8TB36-2]
RefSeqNP_001035808.1. NM_001040875.2. [Q8TB36-2]
NP_061845.2. NM_018972.2. [Q8TB36-1]
UniGeneHs.168950.

3D structure databases

ProteinModelPortalQ8TB36.
SMRQ8TB36. Positions 26-127.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid119934. 7 interactions.
STRING9606.ENSP00000220822.

PTM databases

PhosphoSiteQ8TB36.

Polymorphism databases

DMDM269849682.

Proteomic databases

MaxQBQ8TB36.
PaxDbQ8TB36.
PRIDEQ8TB36.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000220822; ENSP00000220822; ENSG00000104381. [Q8TB36-1]
ENST00000434412; ENSP00000417006; ENSG00000104381. [Q8TB36-2]
GeneID54332.
KEGGhsa:54332.
UCSCuc003yah.3. human. [Q8TB36-1]

Organism-specific databases

CTD54332.
GeneCardsGC08P075276.
GeneReviewsGDAP1.
HGNCHGNC:15968. GDAP1.
HPAHPA014266.
HPA024334.
MIM214400. phenotype.
606598. gene.
607706. phenotype.
607831. phenotype.
608340. phenotype.
neXtProtNX_Q8TB36.
Orphanet99944. Autosomal dominant Charcot-Marie-Tooth disease type 2K.
101097. Autosomal recessive Charcot-Marie-Tooth disease with hoarseness.
217055. Autosomal recessive intermediate Charcot-Marie-Tooth disease type A.
101102. Charcot-Marie-Tooth disease type 2H.
99948. Charcot-Marie-Tooth disease type 4A.
PharmGKBPA28626.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG307949.
HOGENOMHOG000231002.
HOVERGENHBG051717.
InParanoidQ8TB36.
OMAARRQDEQ.
OrthoDBEOG70GMG0.
PhylomeDBQ8TB36.
TreeFamTF327072.

Gene expression databases

ArrayExpressQ8TB36.
BgeeQ8TB36.
CleanExHS_GDAP1.
GenevestigatorQ8TB36.

Family and domain databases

Gene3D1.20.1050.10. 1 hit.
3.40.30.10. 1 hit.
InterProIPR010987. Glutathione-S-Trfase_C-like.
IPR004045. Glutathione_S-Trfase_N.
IPR012336. Thioredoxin-like_fold.
[Graphical view]
PfamPF13417. GST_N_3. 1 hit.
[Graphical view]
SUPFAMSSF47616. SSF47616. 1 hit.
SSF52833. SSF52833. 1 hit.
PROSITEPS50405. GST_CTER. 1 hit.
PS50404. GST_NTER. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiGDAP1.
GenomeRNAi54332.
NextBio35464612.
PROQ8TB36.
SOURCESearch...

Entry information

Entry nameGDAP1_HUMAN
AccessionPrimary (citable) accession number: Q8TB36
Secondary accession number(s): A8K957, E7FJF3, E7FJF4
Entry history
Integrated into UniProtKB/Swiss-Prot: November 7, 2003
Last sequence update: November 24, 2009
Last modified: July 9, 2014
This is version 117 of the entry and version 3 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

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 8

Human chromosome 8: entries, gene names and cross-references to MIM