CYP51A1

Chr 7q21.2

cytochrome P450 family 51 subfamily A member 1

Aliases:: CP51, CYPL1, P450L1, LDM, P450-14DM
MANE:: ENST00000003100.13

OMIM: 601637 ↗NCBI: 1595 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

CYP51A1 · Q16850

v62025-08-01

Predicted Aligned Error matrix for CYP51A1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

90.4/ 100

Very high

509 residues

Confidence breakdown

Very high(≥ 90)76%
Confident(70–90)15%
Low(50–70)6%
Very low(< 50)4%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Bilateral congenital or childhood onset cataracts
BIALLELIC, autosomal or pseudoautosomal
Structural eye disease

Disease associations (Open Targets)

Developmental cataract
0.40
early-onset non-syndromic cataract
0.37
cataract
0.37
Prolonged QT interval
0.35
neurodegenerative disease
0.28
long QT syndrome 11
0.21
Abnormality of the cardiovascular system
0.19
long QT syndrome 1
0.16
cardiac arrest
0.15
Wolff-Parkinson-White syndrome
0.14

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

Protein function (UniProt)

Lanosterol 14-alpha demethylase

Sterol 14alpha-demethylase that plays a critical role in the cholesterol biosynthesis pathway, being cholesterol the major sterol component in mammalian membranes as well as a precursor for bile acid and steroid hormone synthesis (PubMed:20149798, PubMed:8619637, PubMed:9559662). Cytochrome P450 monooxygenase that catalyzes the three-step oxidative removal of the 14alpha-methyl group (C-32) of sterols such as lanosterol (lanosta-8,24-dien-3beta-ol) and 24,25-dihydrolanosterol (DHL) in the form of formate, and converts the sterols to 4,4-dimethyl-5alpha-cholesta-8,14,24-trien-3beta-ol and 4,4-dimethyl-8,14-cholestadien-3beta-ol, respectively, which are intermediates of cholesterol biosynthesis (PubMed:20149798, PubMed:8619637, PubMed:9559662). Can also demethylate substrates not intrinsic to mammals, such as eburicol (24-methylene-24,25-dihydrolanosterol), but at a lower rate than DHL (PubMed:9559662)