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Gene: CYP46A1 (cytochrome P450 family 46 subfamily A member 1) Homo sapiens
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Symbol: CYP46A1
Name: cytochrome P450 family 46 subfamily A member 1
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CH24H; cholesterol 24-hydroxylase; cholesterol 24-monooxygenase; cholesterol 24S-hydroxylase; CP46; CYP46; cytochrome P450 46A1; cytochrome P450, family 46, subfamily A, polypeptide 1; cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)
Orthologs:
Mus musculus (house mouse) : Cyp46a1 (cytochrome P450, family 46, subfamily a, polypeptide 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Cyp46a1 (cytochrome P450, family 46, subfamily a, polypeptide 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : LOC102030124 (cholesterol 24-hydroxylase)
Pan paniscus (bonobo/pygmy chimpanzee) : LOC100978372 (cholesterol 24-hydroxylase)
Canis lupus familiaris (dog) : CYP46A1 (cytochrome P450 family 46 subfamily A member 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : LOC101961079 (cholesterol 24-hydroxylase)
Sus scrofa (pig) : LOC100512793 (cholesterol 24-hydroxylase)
more info ...
Related Pseudogenes: CYP46A4P  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381499,684,262 - 99,727,321 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3714100,150,755 - 100,193,638 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361499,220,508 - 99,263,391 (+)NCBINCBI36hg18NCBI36
Build 341499,220,507 - 99,263,390NCBI
Celera1480,205,602 - 80,248,517 (+)NCBI
Cytogenetic Map14q32.2NCBI
HuRef1480,333,998 - 80,376,909 (+)NCBIHuRef
CHM1_114100,088,519 - 100,131,398 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


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Genomics

Comparative Map Data
Position Markers
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Sequence

Nucleotide Sequences
Protein Sequences
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Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on CYP46A1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1315314
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2019-08-06
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.