CYP11A1

CYP11A1, also known as P450scc or P450 cholesterol side-chain cleavage enzyme, is a crucial enzyme in the human body. It belongs to the cytochrome P450 superfamily, a group of enzymes involved in the metabolism of various compounds, including steroids. The primary function of CYP11A1 is to catalyze the first and rate-limiting step in steroidogenesis, the process by which the body produces steroid hormones. This involves the conversion of cholesterol into pregnenolone, a precursor to all steroid hormones. This reaction takes place within the inner mitochondrial membrane. The enzyme utilizes heme as a cofactor and requires NADPH and molecular oxygen as substrates. Genetic mutations in the CYP11A1 gene can lead to severe consequences, resulting in a rare genetic disorder known as congenital adrenal lipoid hyperplasia (CALH). This condition is characterized by a deficiency in all steroid hormones, leading to life-threatening adrenal insufficiency and developmental abnormalities. CYP11A1 plays a vital role in maintaining hormonal balance and the proper functioning of the endocrine system.