CYP11B1

Chr 8q24.3

cytochrome P450 family 11 subfamily B member 1

Aliases:: P450C11, FHI, CPN1
MANE:: ENST00000292427.10

OMIM: 610613 ↗NCBI: 1584 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

CYP11B1 · P15538

v62025-08-01

Predicted Aligned Error matrix for CYP11B1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

90.8/ 100

Very high

503 residues

Confidence breakdown

Very high(≥ 90)80%
Confident(70–90)12%
Low(50–70)2%
Very low(< 50)6%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Differences in sex development
BIALLELIC, autosomal or pseudoautosomal
Extreme early-onset hypertension
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
0.84
glucocorticoid-remediable aldosteronism
0.69
congenital adrenal hyperplasia
0.57
Cushing syndrome
0.56
adrenal gland disorder
0.55
adrenal cortex carcinoma
0.52
ACTH-dependent Cushing syndrome
0.49
neoplasm
0.39
adrenal gland hyperfunction
0.37
adrenal cortex neoplasm
0.37

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Cytochrome P450 11B1, mitochondrial

A cytochrome P450 monooxygenase mainly involved in the biosynthesis of adrenal corticoids (PubMed:12530636, PubMed:1518866, PubMed:1775135, PubMed:18215163, PubMed:23322723, PubMed:23685396, PubMed:29277707). Catalyzes a variety of reactions that are essential for many species, including detoxification, defense, and the formation of endogenous chemicals like steroid hormones. Steroid 11beta, 18- and 19-hydroxylase with preferred regioselectivity at 11beta, then 18, and lastly 19 (By similarity). Catalyzes the hydroxylation of 11-deoxycortisol and 11-deoxycorticosterone (21-hydroxyprogesterone) at 11beta position, yielding cortisol or corticosterone, respectively, but cannot produce aldosterone (PubMed:12530636, PubMed:1518866, PubMed:1775135, PubMed:18215163, PubMed:23322723, PubMed:23685396, PubMed:29277707). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate for hydroxylation and reducing the second into a water molecule. Two electrons are provided by NADPH via a two-protein mitochondrial transfer system comprising flavoprotein FDXR (adrenodoxin/ferredoxin reductase) and nonheme iron-sulfur protein FDX1 or FDX2 (adrenodoxin/ferredoxin) (PubMed:18215163, PubMed:23685396). Due to its lack of 18-oxidation activity, it is incapable of generating aldosterone (PubMed:23322723). Besides its role in the biosynthesis of mineralocorticoids and glucocorticoids, it can also participate in the androgen metabolic pathway, converting androst-4-ene-3,17-dione to 11beta-hydroxyandrost-4-ene-3,17-dione, and testosterone (17beta-hydroxy-4-androsten-3-one) to 11beta,17beta-dihydroxyandrost-4-ene-3-one (PubMed:23685396, PubMed:29277707)