Orphanet: gap junction protein beta 1
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GJB1 - gap junction protein beta 1

  • Synonym(s) : Charcot-Marie-Tooth neuropathy, X-linked, connexin 32, CX32
  • Previous symbols and names : CMTX, CMTX1, gap junction protein, beta 1, 32kD (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked), gap junction protein, beta 1, 32kDa, gap junction protein, beta 1, 32kDa (connexin 32), gap junction protein, beta 1, 32kDa (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked)
  • Type : gene with protein product
  • Chromosomal location : Xq13.1
  • OMIM: 304040
  • HGNC: 4283
  • UniProtKB: P08034
  • Genatlas: GJB1
  • Ensembl: ENSG00000169562
  • IUPHAR-DB: -
  • Reactome: P08034
  • LOVD: GJB1

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  : Assessed

Gene included in a panel of genes performed as part of a diagnostic test


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