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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
- GenCC: CYP27A1
- Ensembl: ENSG00000135929
- IUPHAR-DB: 1369
- Reactome: Q02318
- LOVD: CYP27A1
Diseases list
- Disease-causing germline mutation(s) in Cerebrotendinous xanthomatosis
ORPHA:909 
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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