CYP11B1 Gene
The CYP11B1 gene provides instructions for making an enzyme called 11-beta-hydroxylase. This enzyme is found in the adrenal glands, which are located on top of the kidneys. The enzyme helps convert a molecule called 11-deoxycortisol to cortisol. Cortisol helps maintain blood sugar levels, protects the body from physical stress, and suppresses inflammation. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Corticosteroid 11-beta-dehydrogenase isozyme 2 catalyzes the conversion of cortisol to the inactive metabolite cortisone. Mutations in this gene cause the syndrome of apparent mineralocorticoid excess and hypertension.
