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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CYP46A1
cytochrome P450 family 46 subfamily A member 1
Chromosome 14 · 14q32.2
NCBI Gene: 10858Ensembl: ENSG00000036530.10HGNC: HGNC:2641UniProt: Q9Y6A2
77PubMed Papers
20Diseases
1Drugs
0Pathogenic Variants
CLINICAL
Clinical Trials
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cholesterol 24-hydroxylase activityprogesterone metabolic processxenobiotic metabolic processsteroid hydroxylase activitymyocardial infarctionLennox-Gastaut syndromecoronary artery diseaseoligodendroglioma
✦AI Summary

CYP46A1 (cholesterol 24-hydroxylase) is a cytochrome P450 enzyme critical for brain cholesterol homeostasis. It catalyzes the conversion of cholesterol to 24S-hydroxycholesterol (24-OHC), a brain-specific oxysterol that readily crosses the blood-brain barrier for hepatic elimination 1. This enzyme accounts for approximately 80% of cholesterol removal from the human brain 2. Beyond cholesterol metabolism, CYP46A1 produces oxysterols that activate nuclear receptors and contribute to synaptic function and neurogenesis [UniProt references]. CYP46A1 dysregulation is implicated in multiple neurodegenerative diseases. In Parkinson's disease, elevated CYP46A1 and 24-OHC levels promote α-synuclein pathology through the XBP1-LAG3 axis, while genetic removal of CYP46A1 attenuates neurodegeneration 3. In Alzheimer's disease, cholesterol homeostasis is impaired, with emerging evidence linking CYP46A1 modulation to disease pathophysiology 4. CYP46A1 overexpression shows sex-specific cognitive benefits in females by enhancing estrogen signaling, while impairing memory in males 5. In Huntington's disease, AAV-CYP46A1 delivery restores cholesterol metabolism with neuroprotective effects 6. Additionally, CYP46A1 polymorphisms influence glaucoma risk 7, and the selective CYP46A1 inhibitor soticlestat demonstrates anti-seizure efficacy 2. Both inhibition and activation of CYP46A1 represent therapeutic strategies depending on disease context.

Sources cited
1
Elevated CYP46A1 and 24-OHC promote α-synuclein pathology in Parkinson's disease via XBP1-LAG3 axis; genetic removal attenuates neurodegeneration
PMID: 39964974
2
Cholesterol homeostasis is impaired in Alzheimer's disease with neuronal cholesterol linked to amyloid-β and tau pathology
PMID: 38301270
3
CYP46A1-mediated cholesterol 24-hydroxylation is the major mechanism for cholesterol removal from brain; CNS-specific enzyme
PMID: 31001737
4
CYP46A1 is responsible for eliminating about 80% of cholesterol excess from human brain; soticlestat is selective CYP46A1 inhibitor with anti-seizure effects
PMID: 37062503
5
CYP46A1 overexpression shows sex-specific effects: enhances cognition via estrogen signaling in females but worsens memory in males
PMID: 38266095
6
AAV-CYP46A1 delivery in Huntington's disease models reduces mutant huntingtin aggregates and improves striatal neuron survival through cholesterol metabolism restoration
PMID: 40859407
7
CYP46A1 polymorphism rs754203 is a risk factor for glaucoma; retinal ganglion cells express high CYP46A1 levels
PMID: 21531213
8
CYP46A1 rs4900442 polymorphism associated with increased Alzheimer's disease risk in Chinese population but not Caucasian populations
PMID: 27026489
Disease Associationsⓘ20
myocardial infarctionOpen Targets
0.38Weak
Lennox-Gastaut syndromeOpen Targets
0.36Weak
coronary artery diseaseOpen Targets
0.31Weak
oligodendrogliomaOpen Targets
0.28Weak
humerus fractureOpen Targets
0.27Weak
percutaneous transluminal coronary angioplastyOpen Targets
0.17Weak
Myocardial IschemiaOpen Targets
0.16Weak
coronary atherosclerosisOpen Targets
0.16Weak
cardiovascular diseaseOpen Targets
0.16Weak
coronary artery bypassOpen Targets
0.15Weak
intermediate coronary syndromeOpen Targets
0.12Weak
atrial fibrillationOpen Targets
0.11Weak
epilepsyOpen Targets
0.10Weak
Huntington diseaseOpen Targets
0.10Suggestive
Dravet syndromeOpen Targets
0.09Suggestive
Alzheimer diseaseOpen Targets
0.09Suggestive
glioblastoma multiformeOpen Targets
0.08Suggestive
COVID-19Open Targets
0.08Suggestive
Parkinson diseaseOpen Targets
0.07Suggestive
complex regional pain syndromeOpen Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Drug Targets1
SOTICLESTATPhase III
Cholesterol 24-hydroxylase inhibitor
Lennox-Gastaut syndrome
Related Genes
CELProtein interaction95%DHCR7Protein interaction95%DHCR24Protein interaction95%LIPAProtein interaction95%SOAT1Protein interaction95%SOAT2Protein interaction95%
Tissue Expression6 tissues
Brain
100%
Heart
41%
Ovary
30%
Liver
19%
Bone Marrow
16%
Lung
7%
Gene Interaction Network
Click a node to explore
CYP46A1CELDHCR7DHCR24LIPASOAT1SOAT2
PROTEIN STRUCTURE
Preparing viewer…
PDB7N6F · 1.40 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.50Moderately Constrained
pLIⓘ
0.98Intolerant
Observed/Expected LoF0.34 [0.24–0.50]
RankingsWhere CYP46A1 stands among ~20K protein-coding genes
  • #6,146of 20,598
    Most Researched77
  • #3,009of 17,882
    Most Constrained (LOEUF)0.50 · top quartile
Genes detectedCYP46A1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The cholesterol 24-hydroxylase CYP46A1 promotes α-synuclein pathology in Parkinson's disease.
PMID: 39964974
PLoS Biol · 2025
1.00
2
Brain cholesterol and Alzheimer's disease: challenges and opportunities in probe and drug development.
PMID: 38301270
Brain · 2024
0.90
3
Cholesterol 24-Hydroxylation by CYP46A1: Benefits of Modulation for Brain Diseases.
PMID: 31001737
Neurotherapeutics · 2019
0.80
4
The potential of CYP46A1 as a novel therapeutic target for neurological disorders: An updated review of mechanisms.
PMID: 37062503
Eur J Pharmacol · 2023
0.70
5
CYP46A1-mediated cholesterol turnover induces sex-specific changes in cognition and counteracts memory loss in ovariectomized mice.
PMID: 38266095
Sci Adv · 2024
0.60