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Gjb3

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Title: Gjb3  
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Subject: Erythrokeratodermia variabilis, Nonsyndromic deafness, Channelopathy, Clouston's hidrotic ectodermal dysplasia, Spinocerebellar ataxia type-13
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Gjb3

Gap junction protein, beta 3, 31kDa
Identifiers
Symbols  ; CX31; DFNA2; DFNA2B; EKV
External IDs IUPHAR: GeneCards:
RNA expression pattern
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)
PubMed search

Gap junction beta-3 protein (GJB3), also known as connexin 31 (Cx31) — is a protein that in humans is encoded by the GJB3 gene.[1][2][3]

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.[3]

References

  1. ^ 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.  
  2. ^ 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.  
  3. ^ a b "Entrez Gene: GJB3 gap junction protein, beta 3, 31kDa". 

Further reading

External links

  • GeneReviews/NCBI/NIH/UW entry on Deafness and Hereditary Hearing Loss Overview


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