GJB3

This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene can cause non-syndromic deafness or erythrokeratodermia variabilis, a skin disorder. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]

Description

gap junction protein beta 3

Protein family

Disease related genes, Mapped to neXtProt, Mapped to UniProt SWISS-PROT, Potential drug targets, Predicted membrane proteins, Protein evidence (Peptideatlas), Transporters

Chromosome

1:p34.3 (34781214 - 34786369)

Ensembl ID

ENSG00000188910  (ver. 99.38)

Orthologs

Mouse Gjb3: ENSMUSG00000042367

UniProt

O75712

neXtProt

NX_O75712

Human splice variants
Mouse splice variants