CYP3A43
Cytochrome P450 Family 3 Subfamily A Member 43
Gene Information Card
| Symbol | CYP3A43 |
|---|---|
| Full Name | Cytochrome P450 Family 3 Subfamily A Member 43 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q22.1 |
| NCBI Gene ID | 64816 ncbi.nlm.nih.gov/gene/64816 |
| Ensembl ID | ENSG00000115561 |
| UniProt ID | Q9H4B8 |
| OMIM ID | 608409 |
| HGNC ID | 2639 |
| Aliases | CYP3A43P, CYP3A43_v1 |
Description
CYP3A43 is a member of the cytochrome P450 superfamily of enzymes involved in the metabolism of drugs, steroids, and other xenobiotics. The gene is located on chromosome 7q22.1 and encodes a protein that is predominantly expressed in the liver and kidney. CYP3A43 exhibits lower catalytic activity compared to other CYP3A family members but may contribute to interindividual variability in drug metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Drug metabolism variability | Polymorphisms in CYP3A43 may alter enzyme activity affecting clearance of substrates | Limited direct disease association; studied in pharmacogenomics |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 2.3 | Low |
| Kidney | 1.8 | Low |
| Prostate | 0.9 | Not detected |
| Testis | 0.7 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 0.5 | Hepatocellular carcinoma cell line |
| HEK293 | 0.3 | Embryonic kidney cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs472660 | SNP | 0.2% (global) | Missense variant; functional impact unknown |
| rs10273424 | SNP | 1.5% (global) | Intronic; potential regulatory effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • monooxygenase activity (GO:0004497) | • iron ion binding (GO:0005506) |
| • heme binding (GO:0020037) | • oxidoreductase activity (GO:0016491) |
| • steroid hydroxylase activity (GO:0008395) |
Pathways
• Metabolism of xenobiotics by cytochrome P450 (Reactome: R-HSA-211981)
• Drug metabolism - cytochrome P450 (KEGG: hsa00982)
Protein Summary
CYP3A43 is a 503-amino acid microsomal heme-thiolate monooxygenase that catalyzes NADPH-dependent oxidation of various substrates. It shares 75% sequence identity with CYP3A4 but exhibits lower catalytic efficiency. The protein is localized to the endoplasmic reticulum and is involved in phase I drug metabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CYP3A43 Knockout HEK293 Cell Line | EDJ-KQ13073 | Human | 64816 | Details Get a Quote |
| CYP3A43 Knockout HeLa Cell Line | EDJ-KQ57085 | Human | 64816 | Details Get a Quote |
| CYP3A43 Knockout A-549 Cell Line | EDJ-KQ65597 | Human | 64816 | Details Get a Quote |
| CYP3A43 Knockout HCT 116 Cell Line | EDJ-KQ74026 | Human | 64816 | Details Get a Quote |
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