CYP3A4 Chromosome 7
Cytochrome P450 family 3 subfamily A member 4
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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
RS2242480
drug response
tacrolimus response - Metabolism/PK, fentanyl response - Dosage, tacrolimus response - Metabolism/PK
Drug Response
RS4646437
drug response
tacrolimus response - Metabolism/PK, tacrolimus response - Metabolism/PK
Drug Response
RS1815413655
Pathogenic
Vitamin D-dependent rickets, type 3, Vitamin D-dependent rickets
Health Risk
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 |