CYP11B1 (P15538) variants and mutations

CYP11B1 (also known as P15538) is a human protein-coding gene encoding a cytochrome P450 11B1, mitochondrial protein. It catalyzes the final step of cortisol synthesis and also contributes to adrenal steroid metabolism. Biallelic loss-of-function variants cause 11-beta-hydroxylase-deficient congenital adrenal hyperplasia, characterized by cortisol deficiency, androgen excess, and frequently hypertension. This analysis covers 1,063 CYP11B1 variants and mutations. Of these, 78% have computational variant effect predictions. Disease context includes congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency, glucocorticoid-remediable aldosteronism, and congenital adrenal hyperplasia. Example CYP11B1 variants include M1L, A2T, and L3F.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable CYP11B1 variants

Examples include M1L, A2T, L3F, R4K, R4M, A5E, A5S, K6Q. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.