CYP11B1
Chr 8ARADcytochrome P450 family 11 subfamily B member 1
Also known as: CPN1, CYP11B, FHI, P450C11
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and is involved in the conversion of progesterone to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CYP11B1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Postmortem Evaluation of Adrenal and Other Endocrine Tumors in Patients With Sudden Death
ACTIVE NOT RECRUITING[11C]Metomidate PET-CT vs Usual Care for People With Primary Aldosteronism: a Proof-of-concept Study
NOT YET RECRUITINGMetyrapone Versus Osilodrostat in Patients With Metabolic Autonomous Cortisol Secretion (MACS)
RECRUITINGDecode the Environment Variation of Targeted Aldosterone Inducer and siLencer
NOT YET RECRUITINGSubtyping Primary Aldosteronism With Para-chloro-2-[18F]Fluoroethyl-etomidate
RECRUITINGExternal Resources
Links to major genomics databases and tools