CYP21A1P
Description
The CYP21A1P (cytochrome P450 family 21 subfamily A member 1, pseudogene) is a pseudo gene located on chromosome 6.
CYP21A1P is a pseudogene located on chromosome 6. It is a non-functional copy of the CYP21A1 gene, which encodes the enzyme 21-hydroxylase. 21-hydroxylase is a key enzyme in the biosynthesis of cortisol and aldosterone. CYP21A1P is thought to have arisen from a duplication of the CYP21A1 gene, but it has accumulated mutations that prevent it from producing a functional protein.
CYP21A1P is a pseudogene of CYP21A1, a gene that encodes the enzyme 21-hydroxylase, which is essential for the biosynthesis of cortisol and aldosterone. Pseudogenes are non-functional copies of genes that have accumulated mutations and lost their ability to produce a functional protein. CYP21A1P may play a role in regulating the expression of CYP21A1, but further research is needed to confirm this.
CYP21A1P is also known as CYP21A, CYP21P, P450c21A.
Associated Diseases
- classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- congenital adrenal hyperplasia
- respiratory tract infectious disorder
- hyperinsulinemic hypoglycemia, familial, 4
- chronic primary adrenal insufficiency
- congenital primary aphakia
- hypertrichosis
