CYP2A6 Chromosome 19

Cytochrome P450 family 2 subfamily A member 6
1 variant 1 Drug Response

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What This Gene Does
This gene, CYP2A6, 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 protein localizes to the endoplasmic reticulum and its expression is induced by phenobarbital. The enzyme is known to hydroxylate coumarin, and also metabolizes nicotine, aflatoxin B1, nitrosamines, and some pharmaceuticals. Individuals with certain allelic variants are said to have a poor metabolizer phenotype, meaning they do not efficiently metabolize coumarin or nicotine. This gene is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. The gene was formerly referred to as CYP2A3; however, it has been renamed CYP2A6. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Cytochrome P450 family 2
Locus Type
gene with protein product
Location
19q13.2
Ensembl
ENSG00000255974
Associated Conditions (3)
Warfarin response
NICOTINE
POOR METABOLISM OF
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS1801272 Drug Response drug response Warfarin response, NICOTINE, POOR METABOLISM OF
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