Search for a gene
CYP11B1 - cytochrome P450 family 11 subfamily B member 1
- Synonym(s) : CPN1, FHI, P450C11, steroid 11-beta-monooxygenase
- Previous symbols and names : CYP11B, cytochrome P450, family 11, subfamily B, polypeptide 1, cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1
- Type : gene with protein product
- Chromosomal location : 8q24.3
- OMIM: 610613
- HGNC: 2591
- UniProtKB: P15538
- Genatlas: CYP11B1
- GenCC: CYP11B1
- Ensembl: ENSG00000160882
- IUPHAR-DB: 1359
- Reactome: P15538
- LOVD: CYP11B1
Diseases list
- Disease-causing germline mutation(s) in Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
ORPHA:90795 - Part of a fusion gene in Familial hyperaldosteronism type I
ORPHA:403

Additional 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.