Description: Homo sapiens cytochrome P450, family 46, subfamily A, polypeptide 1 (CYP46A1), mRNA. RefSeq Summary (NM_006668): This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein is expressed in the brain, where it converts cholesterol to 24S-hydroxycholesterol. While cholesterol cannot pass the blood-brain barrier, 24S-hydroxycholesterol can be secreted in the brain into the circulation to be returned to the liver for catabolism. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr14:100,172,334-100,193,638 Size: 21,305 Total Exon Count: 10 Strand: + Coding Region Position: hg19 chr14:100,173,000-100,193,064 Size: 20,065 Coding Exon Count: 10
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): CYP46A1 CDC HuGE Published Literature: CYP46A1 Positive Disease Associations: Alzheimer's Disease Related Studies:
Alzheimer's Disease Johansson, A. et al. 2004, Variants of CYP46A1 may interact with age and APOE to influence CSF Abeta42 levels in Alzheimer's disease, Human genetics. 2004 May;114(6):581-7.
[PubMed 15034781]
Our results provide an important independent replication of previous findings, supporting the existence of CYP46A1 sequence variants that contribute to variability in beta-amyloid metabolism.
Alzheimer's Disease Combarros, O. et al. 2004, Genetic association of CYP46 and risk for Alzheimer's disease., Dementia and geriatric cognitive disorders. 2004 ;18(4-Mar):257-60.
[PubMed 15286456]
Our results indicate that the intron 2 CYP46 C/C genotype may predispose to AD, and this association is independent of the apolipoprotein E genotype.
Alzheimer's Disease Borroni, B. et al. 2004, Intronic CYP46 polymorphism along with ApoE genotype in sporadic Alzheimer Disease: from riskfactors to disease modulators, Neurobiology of aging. 2004 Jul;25(6):747-51.
[PubMed 15165699]
These findings provide direct evidence that CYP46 and ApoE polymorphisms synergically increase the risk for AD development, and influence on the rate of cognitive decline.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q8N2B0
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
