GJB3
Identifiers
AliasesGJB3, CX31, DFNA2, DFNA2B, EKV, gap junction protein beta 3, EKVP1
External IDsMGI: 95721 HomoloGene: 7338 GeneCards: GJB3
Orthologs
SpeciesHumanMouse
Entrez

2707

14620

Ensembl

ENSG00000188910

ENSMUSG00000042367

UniProt

O75712

P28231

RefSeq (mRNA)

NM_024009
NM_001005752

NM_001160012
NM_008126

RefSeq (protein)

NP_001005752
NP_076872

NP_001153484
NP_032152

Location (UCSC)Chr 1: 34.78 – 34.79 MbChr 4: 127.22 – 127.22 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Gap junction beta-3 protein (GJB3), also known as connexin 31 (Cx31) — is a protein that in humans is encoded by the GJB3 gene.[5][6][7]

Function

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.[7]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000188910 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000042367 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Xia JH, Liu CY, Tang BS, Pan Q, Huang L, Dai HP, Zhang BR, Xie W, Hu DX, Zheng D, Shi XL, Wang DA, Xia K, Yu KP, Liao XD, Feng Y, Yang YF, Xiao JY, Xie DH, Huang JZ (Dec 1998). "Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment". Nat Genet. 20 (4): 370–3. doi:10.1038/3845. PMID 9843210. S2CID 3029271.
  6. ^ Wenzel K, Manthey D, Willecke K, Grzeschik KH, Traub O (Sep 1998). "Human gap junction protein connexin31: molecular cloning and expression analysis". Biochem Biophys Res Commun. 248 (3): 910–5. doi:10.1006/bbrc.1998.9070. PMID 9704026.
  7. ^ a b "Entrez Gene: GJB3 gap junction protein, beta 3, 31kDa".

Further reading

External links


Membrane transport protein: ion channels (TC 1A)
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