CYP3A5 Chromosome 7

Cytochrome P450 family 3 subfamily A member 5
1 variant 1 Drug Response

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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. The encoded protein metabolizes drugs as well as the steroid hormones testosterone and progesterone. This gene is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. Two pseudogenes of this gene have been identified within this cluster on chromosome 7. Expression of this gene is widely variable among populations, and a single nucleotide polymorphism that affects transcript splicing has been associated with susceptibility to hypertensions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
Gene Info
Gene Group
Cytochrome P450 family 3
Locus Type
gene with protein product
Location
7q22.1
Ensembl
ENSG00000106258
Associated Conditions (5)
Hypertension
salt-sensitive essential
susceptibility to
Tacrolimus response
refractory myasthenia gravis
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS776746 Drug Response association; drug response; risk factor Hypertension, salt-sensitive essential, susceptibility to
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