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PKHD1 - PKHD1 ciliary IPT domain containing fibrocystin/polyductin

  • Synonym(s) : ARPKD, FCYT, fibrocystin, fibrocystin/polyductin complex, FPC, polyductin, tigmin
  • Previous symbols and names : PKHD1, fibrocystin/polyductin, TIG multiple domains 1, TIGM1, polycystic kidney and hepatic disease 1 (autosomal recessive)
  • Type : gene with protein product
  • Chromosomal location : 6p12.3-p12.2
  • OMIM: 606702
  • HGNC: 9016
  • UniProtKB: P08F94
  • Genatlas: PKHD1
  • Ensembl: ENSG00000170927
  • IUPHAR-DB: -
  • Reactome: -
  • LOVD: PKHD1

Diseases list

  : Assessed

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


Additional information

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