gene 613 words KG: CYP46A1 2026-03-22
kind:genesection:genesstate:published
Contents

CYP46A1 — Cholesterol 24-Hydroxylase

🧬 Gene Info
Gene SymbolCYP46A1
Full NameCholesterol 24-Hydroxylase
AliasesCH24H
Chromosome14
Protein TypeEnzyme
Target ClassEnzyme
FunctionCYP46A1 plays a critical role in cholesterol metabolism, which is intimately connected to Alzheimer's disease pathogenesis through multiple mechanisms:
Mechanism of ActionSmall molecule activator of cholesterol 24-hydroxylase enhancing brain cholesterol turnover
Primary Expressionneurons of the brain that catalyzes the conversion of cholesterol to 24-hydroxycholesterol
DruggabilityMedium (0.51)
Clinical StageApproved
PathwaysCholesterol metabolism, Oxysterol synthesis, BBB transport
UniProt IDG3V366
Ensembl IDENSG00000146386
GeneCardsCYP46A1
Human Protein AtlasCYP46A1
Associated DiseasesALS, Alzheimer, Alzheimer'S Disease, Amyotrophic Lateral Sclerosis
Known Drugs/CompoundsEFAVIRENZ, efavirenz, spermidine, efavirenz metabolites, lycibarbarspermidines D, neurotransmitters
InteractionsBDNF, APP, ABCA1, APOC1, APOC2, SOAT1
SciDEX TargetView Target Profile (6 clinical trials)
SciDEX HypothesesCYP46A1 Overexpression Gene Therapy
TREM2-Mediated Cholesterol Dysregulation in Microg
CYP46A1 Gene Therapy for Age-Related TREM2-Mediate (+1 more)
KG Connections850 knowledge graph edges
DatabasesGeneCardsNCBI GeneHPASTRING

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