Orphanet: phytanoyl CoA 2 hydroxylase
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PHYH - phytanoyl-CoA 2-hydroxylase

  • Synonym(s) : PAHX, PHYH1, phytanoyl-CoA dioxygenase, RD, Refsum disease
  • Previous symbols and names : phytanoyl-coa hydroxylase, phytanoyl-coa hydroxylase (refsum disease)
  • Type : gene with protein product
  • Chromosomal location : 10p13
  • OMIM: 602026
  • HGNC: 8940
  • UniProtKB: O14832
  • Genatlas: PHYH
  • Ensembl: ENSG00000107537
  • IUPHAR-DB: -
  • Reactome: O14832
  • LOVD: PHYH

Diseases list

  : Assessed

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


Additional information

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