CYP3A4 Chromosome 7

Cytochrome P450 family 3 subfamily A member 4
3 variants 2 Drug Response 1 Health Risk

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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 that 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 glucocorticoids and some pharmacological agents. This enzyme is involved in the metabolism of approximately half the drugs in use today, including acetaminophen, codeine, cyclosporin A, diazepam, erythromycin, and chloroquine. The enzyme also metabolizes some steroids and carcinogens. This gene is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. Previously another CYP3A gene, CYP3A3, was thought to exist; however, it is now thought that this sequence represents a transcript variant of CYP3A4. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2020]
Gene Info
Gene Group
Cytochrome P450 family 3
Locus Type
gene with protein product
Location
7q22.1
Ensembl
ENSG00000160868
Associated Conditions (4)
tacrolimus response - Metabolism/PK
fentanyl response - Dosage
Vitamin D-dependent rickets
type 3
Key Variants
All Variants (3)
RSID Category Clinical Significance Conditions
RS2242480 Drug Response drug response tacrolimus response - Metabolism/PK, fentanyl response - Dosage, tacrolimus response - Metabolism/PK
RS4646437 Drug Response drug response tacrolimus response - Metabolism/PK, tacrolimus response - Metabolism/PK
RS1815413655 Health Risk Pathogenic Vitamin D-dependent rickets, type 3, Vitamin D-dependent rickets
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