CYP11B2
Chr 8cytochrome P450 family 11 subfamily B member 2
Also known as: ALDOS, CPN2, CYP11B, CYP11BL, CYPXIB2, P-450C18, P450C18, P450aldo
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. The enzyme has steroid 18-hydroxylase activity to synthesize aldosterone and 18-oxocortisol as well as steroid 11 beta-hydroxylase activity. Mutations in this gene cause corticosterone methyl oxidase deficiency. [provided by RefSeq, Jul 2008]
Primary Disease Associations & Inheritance
Clinical highlights
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CYP11B2 · 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
Baxdrostat and Molecular Imaging of Adrenal Cytoreduction in Primary Aldosteronism
NOT YET RECRUITINGPostmortem Evaluation of Adrenal and Other Endocrine Tumors in Patients With Sudden Death
ACTIVE NOT RECRUITINGPathological Type，Gene Mutation and Clinical Characteristics of Unilateral Primary Aldosteronism
RECRUITINGA Phase I Trial of QLS1410 in Healthy Chinese Adults and Participants With Mild Essential Hypertension
NOT YET RECRUITINGRegistry Study of Pregnancy and Breast Cancer
ACTIVE NOT RECRUITING[11C]Metomidate PET-CT vs Usual Care for People With Primary Aldosteronism: a Proof-of-concept Study
NOT YET RECRUITINGPETAL Trial: Impact of Gallium-68 Pentixafor PET-CT on Surgical Outcomes in Primary Aldosteronism
RECRUITINGDecode the Environment Variation of Targeted Aldosterone Inducer and siLencer
NOT YET RECRUITINGSubtyping Primary Aldosteronism With Para-chloro-2-[18F]Fluoroethyl-etomidate
RECRUITINGIs the Evolution of the Aldosterone-renin Ratio Pre- Versus Post-operative on Day 1 Following Unilateral Adrenalectomy for Primary Hyperaldosteronism Predictive of Blood Pressure Outcomes
NOT YET RECRUITINGExternal Resources
Links to major genomics databases and tools