Orphanet: cytochrome P450 family 27 subfamily A member 1

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CYP27A1 - cytochrome P450 family 27 subfamily A member 1

  • Synonym(s) : cerebrotendinous xanthomatosis, CP27, CTX
  • Previous symbols and names : CYP27, cytochrome P450, family 27, subfamily A, polypeptide 1, cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1
  • Type : gene with protein product
  • Chromosomal location : 2q35
  • OMIM: 606530
  • HGNC: 2605
  • UniProtKB: Q02318
  • Genatlas: CYP27A1
  • Ensembl: ENSG00000135929
  • IUPHAR-DB: -
  • Reactome: Q02318
  • LOVD: CYP27A1

Diseases list

  : Assessed

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

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