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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CYP51A1
cytochrome P450 family 51 subfamily A member 1
Chromosome 7 · 7q21.2
NCBI Gene: 1595Ensembl: ENSG00000001630.19HGNC: HGNC:2649UniProt: Q16850
111PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
sterol 14-demethylase activityheme bindingmembranesteroid biosynthetic processDevelopmental cataractcataractProlonged QT intervalneurodegenerative disease
✦AI Summary

CYP51A1 (sterol 14α-demethylase) is a highly conserved cytochrome P450 enzyme essential for cholesterol biosynthesis 1. It catalyzes the three-step oxidative demethylation of lanosterol and 24,25-dihydrolanosterol, converting them to intermediates in the cholesterol synthesis pathway 2. Beyond its canonical metabolic role, CYP51A1 has emerged as a critical regulator of multiple forms of regulated cell death. In ferroptosis, CYP51A1 functions as a ferroptosis suppressor by maintaining 7-dehydrocholesterol (7-DHC) levels, which shields cell membranes from phospholipid autoxidation 3. In pancreatic cancer, CYP51A1 drives resistance to pH-dependent cell death by preventing cholesterol accumulation in lysosomes and enabling lysosomal proton efflux 4. CYP51A1 shows exceptionally low nucleotide variability in humans, indicating strong evolutionary conservation and selection pressure 5. Disease associations have expanded beyond traditional metabolic disorders to include cancer, neurodegeneration, and cerebral palsy, where CYP51A1 variants were identified as plausible candidate genes 6. These findings demonstrate that CYP51A1 integrates metabolic homeostasis with cell fate control, positioning it as a promising therapeutic target across diverse pathological contexts 2.

Sources cited
1
CYP51A1 is a conserved sterol 14α-demethylase essential for cholesterol synthesis and regulates multiple forms of regulated cell death including ferroptosis, alkaliptosis, and pyroptosis
PMID: 40659633
2
CYP51 is the single cytochrome P450 required for sterol biosynthesis and catalyzes removal of the 14 alpha-methyl group from lanosterol
PMID: 15026190
3
CYP51A1 functions as a ferroptosis suppressor by maintaining 7-dehydrocholesterol levels, which protects cell membranes from phospholipid autoxidation
PMID: 38297130
4
CYP51A1 suppresses pH-dependent cell death in pancreatic cancer by preventing lysosomal cholesterol accumulation and enabling TMEM175-dependent lysosomal proton efflux
PMID: 40055353
5
CYP51A1 has the lowest number of coding variants among studied liver CYPs and shows low population variability in humans
PMID: 24362992
6
CYP51A1 was identified as a plausible candidate gene for cerebral palsy through whole-genome sequencing enrichment analysis
PMID: 38553553
Disease Associationsⓘ20
Developmental cataractOpen Targets
0.40Weak
cataractOpen Targets
0.37Weak
Prolonged QT intervalOpen Targets
0.35Weak
neurodegenerative diseaseOpen Targets
0.28Weak
long QT syndrome 11Open Targets
0.21Weak
Abnormality of the cardiovascular systemOpen Targets
0.19Weak
familial long QT syndromeOpen Targets
0.19Weak
Romano-Ward syndromeOpen Targets
0.19Weak
long QT syndrome 1Open Targets
0.16Weak
cardiac arrestOpen Targets
0.15Weak
Wolff-Parkinson-White SyndromeOpen Targets
0.14Weak
hypertrophic cardiomyopathyOpen Targets
0.12Weak
early-onset non-syndromic cataractOpen Targets
0.11Weak
breast carcinomaOpen Targets
0.11Weak
breast cancerOpen Targets
0.10Weak
ArthralgiaOpen Targets
0.09Suggestive
metabolic syndromeOpen Targets
0.07Suggestive
atrial fibrillationOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.06Suggestive
Leri-Weill dyschondrosteosisOpen Targets
0.05Suggestive
Pathogenic Variants1
NM_000786.4(CYP51A1):c.695T>C (p.Leu232Pro)Likely pathogenic
not provided
★☆☆☆2024→ Residue 232
View on ClinVar ↗
Related Genes
SQLEProtein interaction100%HSD17B7Protein interaction100%TM7SF2Protein interaction100%MSMO1Protein interaction100%ERG28Protein interaction100%LBRProtein interaction99%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
59%
Liver
44%
Heart
41%
Ovary
39%
Lung
29%
Gene Interaction Network
Click a node to explore
CYP51A1SQLEHSD17B7TM7SF2MSMO1ERG28LBR
PROTEIN STRUCTURE
Preparing viewer…
PDB6UEZ · 1.98 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.16LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.86 [0.65–1.16]
RankingsWhere CYP51A1 stands among ~20K protein-coding genes
  • #4,266of 20,598
    Most Researched111 · top quartile
  • #4,853of 5,498
    Most Pathogenic Variants1
  • #12,059of 17,882
    Most Constrained (LOEUF)1.16
Genes detectedCYP51A1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
7-Dehydrocholesterol dictates ferroptosis sensitivity.
PMID: 38297130
Nature · 2024
1.00
2
CYP51A1 drives resistance to pH-dependent cell death in pancreatic cancer.
PMID: 40055353
Nat Commun · 2025
0.90
3
Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy.
PMID: 38553553
Nat Genet · 2024
0.80
4
CYP51A1 in health and disease: from sterol metabolism to regulated cell death.
PMID: 40659633
Cell Death Discov · 2025
0.70
5
Interaction of 17α-hydroxylase, 17(20)-lyase (CYP17A1) inhibitors - abiraterone and galeterone - with human sterol 14α-demethylase (CYP51A1).
PMID: 29807244
J Inorg Biochem · 2018
0.60