CYP3A7-CYP3A51P
Description
The CYP3A7-CYP3A51P (CYP3A7-CYP3A51P readthrough) is a protein-coding gene located on chromosome 7.
CYP3A7 is a cytochrome P450 enzyme that is primarily expressed in the fetal liver. It is thought to play a role in the metabolism of bilirubin and other steroids. CYP3A51P is a pseudogene, meaning it is a non-functional copy of a gene. It is not known to have any functional role.
CYP3A7 is a member of the cytochrome P450 superfamily of enzymes. These enzymes are monooxygenases that catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids, and other lipids. CYP3A7 is expressed primarily in the fetal liver and is thought to play a role in the metabolism of bilirubin and other steroids. CYP3A51P is a pseudogene, meaning it is a non-functional copy of a gene. Pseudogenes often arise from mutations that disrupt the gene's ability to produce a functional protein. Although CYP3A51P is not functional, it may play a role in regulating the expression of other CYP3A genes.
CYP3A7-CYP3A51P is also known as CYP3A7, CYP3A7-3AP1, CYP3A7-CYP3AP1, CYP3A7.1L, CYPIIIA7.
Associated Diseases
- thrombocytopenia 4
- macrothrombocytopenia, isolated, 2, autosomal dominant
- beta-thalassemia-X-linked thrombocytopenia syndrome
- autosomal dominant macrothrombocytopenia
- platelet-type bleeding disorder 10
- platelet-type bleeding disorder 15
