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GJB3 - gap junction protein beta 3

  • Synonym(s) : connexin 31, CX31
  • Previous symbols and names : DFNA2, EKV, erythrokeratodermia variabilis, gap junction protein, beta 3, 31kD (connexin 31), gap junction protein, beta 3, 31kDa, gap junction protein, beta 3, 31kDa (connexin 31)
  • Type : gene with protein product
  • Chromosomal location : 1p34.3
  • OMIM: 603324
  • HGNC: 4285
  • UniProtKB: O75712
  • Genatlas: GJB3
  • GenCC: GJB3
  • Ensembl: ENSG00000188910
  • IUPHAR-DB: 720
  • Reactome: O75712
  • LOVD: GJB3

Diseases list

  : Assessed

Additional information

Patient-centred resources for this gene

Specialised Social Services

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