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Open Access Articles- Top Results for GJB3

GJB3

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Identifiers
SymbolsGJB3 ; CX31; DFNA2; DFNA2B; EKV
External IDsOMIM603324 MGI95721 HomoloGene7338 IUPHAR: 720 GeneCards: GJB3 Gene
RNA expression pattern
File:PBB GE GJB3 215243 s at tn.png
File:PBB GE GJB3 205490 x at tn.png
File:PBB GE GJB3 205491 s at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez270714620
EnsemblENSG00000188910ENSMUSG00000042367
UniProtO75712P28231
RefSeq (mRNA)NM_001005752NM_001160012
RefSeq (protein)NP_001005752NP_001153484
Location (UCSC)Chr 1:
35.25 – 35.25 Mb
Chr 4:
127.33 – 127.33 Mb
PubMed search[1][2]

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. PMID 9843210. doi:10.1038/3845. 
  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. PMID 9704026. doi:10.1006/bbrc.1998.9070. 
  3. 3.0 3.1 "Entrez Gene: GJB3 gap junction protein, beta 3, 31kDa". 

Further reading

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External links


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