Cytochrome P450 family 21 subfamily A member 2

This syndrome, dubbed CAPS (CYP21A2 Mutation Associated Neuropsychiatric Spectrum), could predict the development of chronic illness. CYP21A2 is found within the RCCX gene module, which some theorize is responsible for the myriad of differing signs and symptoms of myalgic encephalomyelitis (ME).

The CYP21A2 gene provides instructions for making an enzyme called 21-hydroxylase, which is part of the cytochrome P450 family of enzymes. Cytochrome P450 enzymes are involved in many processes in the body, such as assisting with reactions that break down drugs and helping to produce cholesterol, certain hormones, and fats (lipids). The 21-hydroxylase enzyme is found in the adrenal glands, which are located on top of the kidneys and produce a variety of hormones that regulate many essential functions in the body. 21-hydroxylase plays a role in producing hormones called cortisol and aldosterone. Cortisol helps maintain blood sugar levels, protects the body from stress, and suppresses inflammation. Aldosterone is sometimes called the salt-retaining hormone because it regulates the amount of salt retained by the kidneys. The retention of salt affects fluid levels in the body and blood pressure.

Notable studies

 * https://ghr.nlm.nih.gov/gene/CYP21A2