CYP11A1

Description

The CYP11A1 gene, also known as the cholesterol side-chain cleavage enzyme (CYP11A1), plays a vital role in the production of steroid hormones. Located on chromosome 10, CYP11A1 encodes an enzyme that catalyzes the first step in steroidogenesis, the conversion of cholesterol to pregnenolone. This crucial step initiates the biosynthesis of essential hormones like cortisol, aldosterone, and sex hormones. These hormones regulate a wide range of physiological processes, including stress response, blood pressure, electrolyte balance, and sexual development.

Associated Diseases

• Congenital adrenal hyperplasia (CAH)
• Lipoid congenital adrenal hyperplasia (LCAH)
• Adrenal insufficiency
• Hypertension
• Infertility
• Premature ovarian failure

Did you know?

Mutations in the CYP11A1 gene can lead to a rare condition called lipoid congenital adrenal hyperplasia (LCAH). This disorder prevents the synthesis of all steroid hormones, resulting in severe adrenal insufficiency and developmental abnormalities.