CYP11B1
Chr 8cytochrome P450 family 11 subfamily B member 1
Also known as: CPN1, CYP11B, FHI, P450C11
This mitochondrial cytochrome P450 enzyme catalyzes the 11β-hydroxylation of steroid precursors to produce cortisol and corticosterone in the adrenal cortex. Mutations cause congenital adrenal hyperplasia due to 11β-hydroxylase deficiency (autosomal recessive) presenting in infancy with virilization and hypertension, or glucocorticoid-remediable aldosteronism (autosomal dominant) with early-onset hypertension. The gene shows low constraint to loss-of-function variation (pLI near zero), consistent with the recessive inheritance pattern of the classic form.
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
459 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 19 | 7 | 29 | 0 | 55 |
Likely Pathogenic | 26 | 22 | 10 | 1 | 59 |
VUS | 1 | 150 | 16 | 2 | 169 |
Likely Benign | 0 | 1 | 89 | 70 | 160 |
Benign | 0 | 0 | 0 | 0 | 0 |
Conflicting | — | 14 | |||
| Total | 46 | 180 | 144 | 73 | 457 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View 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.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Metyrapone Versus Osilodrostat in Patients With Metabolic Autonomous Cortisol Secretion (MACS)
RECRUITINGPostmortem Evaluation of Adrenal and Other Endocrine Tumors in Patients With Sudden Death
ACTIVE NOT RECRUITINGSubtyping Primary Aldosteronism With Para-chloro-2-[18F]Fluoroethyl-etomidate
RECRUITINGExternal Resources
Links to major genomics databases and tools