P19099.3
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UniProt Related Accession #
NCBI Official Full Name
Cytochrome P450 11B2, mitochondrial
NCBI Official Synonym Full Names
cytochrome P450, family 11, subfamily B, polypeptide 2
NCBI Official Synonym Symbols
CPN2; ALDOS; CYP11B; CYP11BL; CYPXIB2; P450C18; P-450C18; P450aldo [Similar Products]
NCBI Protein Information
cytochrome P450 11B2, mitochondrial; cytochrome P-450C18; aldosterone synthase; cytochrome P-450Aldo; steroid 11-beta-monooxygenase; steroid 11-beta/18-hydroxylase; aldosterone-synthesizing enzyme; steroid 18-hydroxylase, aldosterone synthase, P450C18, P450aldo; mitochondrial cytochrome P450, family 11, subfamily B, polypeptide 2; cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2
UniProt Protein Name
Cytochrome P450 11B2, mitochondrial
UniProt Synonym Protein Names
Aldosterone synthase (EC:1.14.15.4, EC:1.14.15.5); ALDOS; Aldosterone-synthesizing enzyme; CYPXIB2; Cytochrome P-450Aldo; Cytochrome P-450C18; Steroid 18-hydroxylase
UniProt Synonym Gene Names
NCBI Summary for CORT
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]
UniProt Comments for CORT
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 - C21-steroid hormone; EC 1.14.15.4; Oxidoreductase; EC 1.14.15.5; Mitochondrial; Lipid Metabolism - androgen and estrogen
Chromosomal Location of Human Ortholog: 8q21-q22
Cellular Component: mitochondrion; mitochondrial inner membrane
Molecular Function: corticosterone 18-monooxygenase activity; steroid 11-beta-monooxygenase activity; iron ion binding; heme binding
Biological Process: steroid metabolic process; xenobiotic metabolic process; mineralocorticoid biosynthetic process; renal water homeostasis; C21-steroid hormone biosynthetic process; sodium ion homeostasis; aldosterone mediated regulation of blood volume; potassium ion homeostasis; sterol metabolic process; aldosterone biosynthetic process; cellular response to hormone stimulus
Disease: Corticosterone Methyloxidase Type Ii Deficiency; Corticosterone Methyloxidase Type I Deficiency
Research Articles on CORT
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