CYP3A4 cytochrome P450 family 3 subfamily A member 4
Gene ID: 1576, updated on 31-Mar-2024Gene type: protein coding
Also known as: HLP; CP33; CP34; CYP3A; NF-25; VDDR3; CYP3A3; P450C3; CYPIIIA3; CYPIIIA4; P450PCN1
- See all available tests in GTR for this gene
- Go to complete Gene record for CYP3A4
- Go to Variation Viewer for CYP3A4 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Clozapine response MedGen: CN077971GeneReviews: Not available | See labs |
| Esomeprazole response MedGen: CN077982GeneReviews: Not available | See labs |
| Human metabolic individuality in biomedical and pharmaceutical research. GeneReviews: Not available | |
| Ondansetron response MedGen: CN417142GeneReviews: Not available | See labs |
| Vitamin D-dependent rickets, type 3 | not available |
Genomic context
- Location:
- 7q22.1
- Sequence:
- Chromosome: 7; NC_000007.14 (99756967..99784184, complement)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CYP3A4 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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