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MT000169

UniProt Annotations

Entry Information

Gene Name	cytochrome P450, family 11, subfamily B, polypeptide 2
Protein Entry	C11B2_HUMAN
UniProt ID	P19099
Species	Human

Comments

Comment type	Description
Catalytic Activity	A steroid + 2 reduced adrenodoxin + O(2) + 2 H(+) = an 11-beta- hydroxysteroid + 2 oxidized adrenodoxin + H(2)O. {ECO:0000269\|PubMed:23322723}.
Catalytic Activity	Corticosterone + 2 reduced adrenodoxin + O(2) + 2 H(+) = 18-hydroxycorticosterone + 2 oxidized adrenodoxin + H(2)O. {ECO:0000269\|PubMed:23322723}.
Cofactor	Name=heme; Xref=ChEBI:CHEBI:30413; Evidence={ECO:0000269\|PubMed:23322723};
Disease	Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) [MIM:203400]: 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. {ECO:0000269\|PubMed:11238478, ECO:0000269\|PubMed:9177280}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Corticosterone methyloxidase 2 deficiency (CMO-2 deficiency) [MIM:610600]: 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. {ECO:0000269\|PubMed:12788848, ECO:0000269\|PubMed:1346492, ECO:0000269\|PubMed:1594605, ECO:0000269\|PubMed:9625333, ECO:0000269\|PubMed:9814506}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Familial hyperaldosteronism 1 (FH1) [MIM:103900]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry. The molecular defect causing hyperaldosteronism familial 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.
Function	Preferentially catalyzes the conversion of 11- deoxycorticosterone to aldosterone via corticosterone and 18- hydroxycorticosterone. {ECO:0000269\|PubMed:23322723}.
Similarity	Belongs to the cytochrome P450 family. {ECO:0000305}.
Subcellular Location	Mitochondrion membrane.
Web Resource	Name=Wikipedia; Note=CYP11B2 entry; URL="http://en.wikipedia.org/wiki/CYP11B2";