CYP11B2 Antibody – Rabbit Polyclonal

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane. The enzyme has steroid 18-hydroxylase activity to synthesize aldosterone and 18-oxocortisol as well as steroid 11 beta-hydroxylase activity. Mutations in this gene cause corticosterone methyl oxidase deficiency. [provided by RefSeq, Jul 2008]

CYP11B2: Preferentially catalyzes the conversion of 11- deoxycorticosterone to aldosterone via corticosterone and 18- hydroxycorticosterone. Defects in CYP11B2 are the cause of corticosterone methyloxidase type 1 deficiency (CMO-1 deficiency); also known as aldosterone deficiency due to defect in 18- hydroxylase or aldosterone deficiency I. CMO-1 deficiency is an autosomal recessive disorder of aldosterone biosynthesis. There are two biochemically different forms of selective aldosterone deficiency be termed corticosterone methyloxidase (CMO) deficiency type 1 and type 2. In CMO-1 deficiency, aldosterone is undetectable in plasma, while its immediate precursor, 18- hydroxycorticosterone, is low or normal. Defects in CYP11B2 are the cause of corticosterone methyloxidase type 2 deficiency (CMO-2 deficiency). CMO-2 is an autosomal recessive disorder of aldosterone biosynthesis. In CMO-2 deficiency, aldosterone can be low or normal, but at the expense of increased secretion of 18- hydroxycorticosterone. Consequently, patients have a greatly increased ratio of 18-hydroxycorticosterone to aldosterone and a low ratio of corticosterone to 18-hydroxycorticosterone in serum. Defects in CYP11B2 are a cause of familial hyperaldosteronism type 1 (FH1). It is a disorder characterized by hypertension, variable hyperaldosteronism, and abnormal adrenal steroid production, including 18-oxocortisol and 18-hydroxycortisol. There is significant phenotypic heterogeneity, and some individuals never develop hypertension. The molecular defect causing hyperaldosteronism familial type 1 is an anti-Lepore-type fusion of the CYP11B1 and CYP11B2 genes. The hybrid gene has the promoting part of CYP11B1, ACTH-sensitive, and the coding part of CYP11B2. Belongs to the cytochrome P450 family.

Protein type: Lipid Metabolism - androgen and estrogen; Oxidoreductase; Lipid Metabolism - C21-steroid hormone; EC 1.14.15.4; Mitochondrial; EC 1.14.15.5

Chromosomal Location of Human Ortholog: 8q21-q22

Cellular Component: mitochondrial inner membrane; mitochondrion

Molecular Function: corticosterone 18-monooxygenase activity; heme binding; iron ion binding; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen; steroid 11-beta-monooxygenase activity; steroid hydroxylase activity

Biological Process: aldosterone biosynthetic process; aldosterone mediated regulation of blood volume; C21-steroid hormone biosynthetic process; cellular response to hormone stimulus; cholesterol metabolic process; mineralocorticoid biosynthetic process; potassium ion homeostasis; renal water homeostasis; sodium ion homeostasis; sterol metabolic process

Disease: Corticosterone Methyloxidase Type I Deficiency; Corticosterone Methyloxidase Type Ii Deficiency