CYP46A1 (cytochrome P450 family 46 subfamily A member 1)

2014-11-01  

Identity

HGNC
LOCATION
14q32.2
LOCUSID
ALIAS
CP46,CYP46
FUSION GENES

Other Information

Locus ID:

NCBI: 10858
MIM: 604087
HGNC: 2641
Ensembl: ENSG00000036530

Variants:

dbSNP: 10858
ClinVar: 10858
TCGA: ENSG00000036530
COSMIC: CYP46A1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000036530ENST00000261835Q9Y6A2
ENSG00000036530ENST00000380228Q9Y6A2
ENSG00000036530ENST00000554611G3V366
ENSG00000036530ENST00000554917H0YJU5
ENSG00000036530ENST00000556313H0YJI0

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
Primary bile acid biosynthesisKEGGko00120
Primary bile acid biosynthesisKEGGhsa00120
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Bile acid and bile salt metabolismREACTOMER-HSA-194068
Synthesis of bile acids and bile saltsREACTOMER-HSA-192105
Synthesis of bile acids and bile salts via 24-hydroxycholesterolREACTOMER-HSA-193775
Biological oxidationsREACTOMER-HSA-211859
Phase 1 - Functionalization of compoundsREACTOMER-HSA-211945
Cytochrome P450 - arranged by substrate typeREACTOMER-HSA-211897
Endogenous sterolsREACTOMER-HSA-211976

References

Pubmed IDYearTitleCitations
188422942008Association between the SERPING1 gene and age-related macular degeneration: a two-stage case-control study.65
186216812008Crystal structures of substrate-bound and substrate-free cytochrome P450 46A1, the principal cholesterol hydroxylase in the brain.48
146406972003Broad substrate specificity of human cytochrome P450 46A1 which initiates cholesterol degradation in the brain.43
160139132005A cluster of cholesterol-related genes confers susceptibility for Alzheimer's disease.38
125330852003Increased brain beta-amyloid load, phosphorylated tau, and risk of Alzheimer disease associated with an intronic CYP46 polymorphism.33
205354862010Capillary cerebral amyloid angiopathy identifies a distinct APOE epsilon4-associated subtype of sporadic Alzheimer's disease.32
206678282010Structural basis of drug binding to CYP46A1, an enzyme that controls cholesterol turnover in the brain.30
201930402010Increased expression of cholesterol 24S-hydroxylase results in disruption of glial glutamate transporter EAAT2 association with lipid rafts: a potential role in Alzheimer's disease.25
210499852011Quantification of cholesterol-metabolizing P450s CYP27A1 and CYP46A1 in neural tissues reveals a lack of enzyme-product correlations in human retina but not human brain.24
263587802015Cholesterol 24-hydroxylase defect is implicated in memory impairments associated with Alzheimer-like Tau pathology.23

Citation

Dessen P

CYP46A1 (cytochrome P450 family 46 subfamily A member 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62257/cyp46a1