GJB1

GENE INFORMATION

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Gene name

GJB1 (HGNC Symbol)

Synonyms

CMTX, CMTX1, CX32

Description

gap junction protein, beta 1, 32kDa (HGNC Symbol)

Entrez gene summary

This gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2008]

Chromosome

X (Chromosome progress)

Cytoband

q13.1

Chromosome location (bp)

70435044 - 70445366

Ensembl

ENSG00000169562 (version 73.37)

Entrez gene

2705

UniProt

P08034 (UniProt - Evidence at protein level)

neXtProt

NX_P08034

Antibodypedia

GJB1 antibodies
 

PROTEIN VIEW

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GJB1-001
 
GJB1-002
 
GJB1-003
 
GJB1-004
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

GJB1-001 ENSP00000363134
ENST00000374022
P08034
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Show » Show » 283 32 No 4
GJB1-002 ENSP00000354900
ENST00000361726
P08034
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Show » Show » 283 32 No 4
GJB1-003 ENSP00000363141
ENST00000374029
P08034
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Show » Show » 283 32 No 4
GJB1-004 ENSP00000407223
ENST00000447581
C9JWU8
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Show » Show » 84 9.5 No 1