Gap Junction Protein, Beta-3

Alternative Names

  • GJB3
  • Gap Junction Protein, 31-Kd
  • Connexin 31
  • CX31
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OMIM Number

603324

NCBI Gene ID

2707

Uniprot ID

O75712

Length

5,151 bases

No. of Exons

3

Protein Name

Gap junction beta-3 protein

Molecular Mass

30818 Da

Amino Acid Count

270

Genomic Location

chr1:34,781,214-34,786,364

Gene Map Locus
1p34.3

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_024009.3:c.185A>GSaudi ArabiaNC_000001.11:g.34784947A>GUncertain SignificanceErythrokeratodermia Variabilis et Progressiva 1NG_008309.1:g.8759A>G; NM_024009.3:c.185A>G; NP_076872.1:p.Asn62Ser
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