Orphanet: gap junction protein alpha 1

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GJA1 - gap junction protein alpha 1

  • Synonym(s) : connexin 43, CX43, oculodentodigital dysplasia (syndactyly type III), ODD, ODOD, SDTY3
  • Previous symbols and names : GJAL, ODDD, gap junction protein, alpha 1, 43kDa, gap junction protein, alpha 1, 43kDa (connexin 43), gap junction protein, alpha-like
  • Type : gene with protein product
  • Chromosomal location : 6q22.31
  • OMIM: 121014
  • HGNC: 4274
  • UniProtKB: P17302
  • Genatlas: GJA1
  • Ensembl: ENSG00000152661
  • IUPHAR-DB: -
  • Reactome: P17302
  • LOVD: GJA1

Diseases list

  : Assessed

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

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