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CYP17A1 - cytochrome P450 family 17 subfamily A member 1
- Synonym(s) : CPT7, P450C17, S17AH, Steroid 17-alpha-monooxygenase
- Previous symbols and names : CYP17, cytochrome P450, family 17, subfamily A, polypeptide 1, cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia
- Type : gene with protein product
- Chromosomal location : 10q24.32
- OMIM: 609300
- HGNC: 2593
- UniProtKB: P05093
- Genatlas: CYP17A1
- GenCC: CYP17A1
- Ensembl: ENSG00000148795
- IUPHAR-DB: 1361
- Reactome: P05093
- LOVD: CYP17A1
Diseases list
- Disease-causing germline mutation(s) in 46,XY disorder of sex development due to isolated 17,20-lyase deficiency
ORPHA:90796 
- Disease-causing germline mutation(s) in Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
ORPHA:90793
: AssessedAdditional information
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