Search for a gene
CYP11A1 - cytochrome P450 family 11 subfamily A member 1
- Synonym(s) : cholesterol monooxygenase (side-chain-cleaving), P450SCC
- Previous symbols and names : CYP11A, cytochrome P450, family 11, subfamily A, polypeptide 1, cytochrome P450, subfamily XIA (cholesterol side chain cleavage)
- Type : gene with protein product
- Chromosomal location : 15q24.1
- OMIM: 118485
- HGNC: 2590
- UniProtKB: P05108
- Genatlas: CYP11A1
- GenCC: CYP11A1
- Ensembl: ENSG00000140459
- IUPHAR-DB: 1358
- Reactome: P05108
- LOVD: CYP11A1
Diseases list
- Disease-causing germline mutation(s) (loss of function) in 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency
ORPHA:168558 
- Disease-causing germline mutation(s) (loss of function) in Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
ORPHA:289548
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.