CYP3A7 Gene: Function, Expression, and Clinical Significance

CYP3A7 encodes a member of the cytochrome P450 superfamily of enzymes, specifically the CYP3A subfamily. This protein is predominantly expressed in fetal liver and is involved in the metabolism of endogenous steroids, xenobiotics, and drugs. It shares high sequence similarity with CYP3A4 and CYP3A5 but exhibits distinct substrate specificity. Genetic variants in CYP3A7 can influence enzyme activity and have been associated with altered drug metabolism and disease susceptibility.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Metabolism of xenobiotics by cytochrome P450 (KEGG: hsa00980)

• Drug metabolism - cytochrome P450 (KEGG: hsa00982)

• Retinol metabolism (KEGG: hsa00830)

• Steroid hormone biosynthesis (KEGG: hsa00140)

CYP3A7 is a 503-amino acid microsomal hemoprotein with a molecular weight of approximately 57 kDa. It is a member of the cytochrome P450 3A subfamily, primarily expressed in fetal liver, where it constitutes the major CYP3A enzyme. The protein catalyzes the oxidative metabolism of a variety of endogenous substrates (e.g., dehydroepiandrosterone sulfate, retinoic acid) and xenobiotics (e.g., aflatoxin B1, some drugs). Its expression declines after birth and is replaced by CYP3A4 in adults, but certain promoter variants (e.g., CYP3A7*1C) can lead to persistent or ectopic expression, with implications for drug metabolism and disease.