CYP46A1 Chromosome 14

Cytochrome P450 family 46 subfamily A member 1
1 variant 1 Protective

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What This Gene Does
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]
Gene Info
Gene Group
Cytochrome P450 family 46
Locus Type
gene with protein product
Location
14q32.2
Ensembl
ENSG00000036530
Associated Conditions (3)
Pulmonary disease
chronic obstructive
susceptibility to
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS3742377 Protective protective Pulmonary disease, chronic obstructive, susceptibility to
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