CYP11B2 : cytochrome P450 family 11 subfamily B member 2

Description

The CYP11B2 (cytochrome P450 family 11 subfamily B member 2) is a protein-coding gene located on chromosome 8.

The CYP11B2 gene provides instructions for making an enzyme called aldosterone synthase (previously known as corticosterone methyloxidase). This enzyme is found in the adrenal glands, which are located on top of the kidneys. Aldosterone synthase is a member of the cytochrome P450 family of enzymes. These enzymes are involved in the formation and breakdown of various molecules within cells.Aldosterone synthase helps produce a hormone called aldosterone. Aldosterone helps control blood pressure by maintaining proper salt and fluid levels in the body. The aldosterone synthase enzyme is involved in a series of three chemical reactions that produce aldosterone from other (precursor) molecules: the conversion of 11-deoxycorticosterone to corticosterone, the conversion of corticosterone to 18-hydroxycorticosterone, and the conversion of 18-hydroxycorticosterone to aldosterone.

CYP11B2 is a cytochrome P450 monooxygenase responsible for the biosynthesis of aldosterone, the main mineralocorticoid hormone regulating salt and water balance in the human body. This vital process influences blood pressure, potentially contributing to arterial hypertension and heart failure. CYP11B2 catalyzes three sequential oxidation reactions of 11-deoxycorticosterone, culminating in aldosterone production. These reactions involve 11-beta hydroxylation, followed by two C18 oxidations, forming 18-hydroxy and 18-oxo intermediates. CYP11B2 can also produce 18-hydroxycortisol and 18-oxocortisol, which are derived from cortisol oxidation and are elevated in primary aldosteronism, a common cause of secondary hypertension. CYP11B2 utilizes molecular oxygen to introduce one oxygen atom into a substrate and reduces the second oxygen atom to water. Electron transfer is facilitated by NADPH through a two-protein mitochondrial system comprising flavoprotein FDXR (adrenodoxin/ferredoxin reductase) and nonheme iron-sulfur protein FDX1 or FDX2 (adrenodoxin/ferredoxin). There is potential involvement of CYP11B2 in androgen metabolism.

CYP11B2 is also known as ALDOS, CPN2, CYP11B, CYP11BL, CYPXIB2, P-450C18, P450C18, P450aldo.

Associated Diseases

• Hypoaldosteronism, congenital, due to CMO II deficiency
• Early-onset familial hypoaldosteronism
• Familial hyperaldosteronism type I
• Corticosterone methyloxidase type I deficiency
• Familial hyperaldosteronism
• Corticosterone methyloxidase deficiency