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MitoProteome Human Mitochondrial Protein Database
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Related Proteins
MT000168
UniProt Annotations
Entry Information
Gene Name
cytochrome P450, family 11, subfamily B, polypeptide 1
Protein Entry
C11B1_HUMAN
UniProt ID
P15538
Species
Human
Comments
Comment type
Description
Alternative Products
Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P15538-1; Sequence=Displayed; Name=2; IsoId=P15538-2; Sequence=VSP_043308; Note=No experimental confirmation available.;
Catalytic Activity
A steroid + 2 reduced adrenodoxin + O(2) + 2 H(+) = an 11-beta- hydroxysteroid + 2 oxidized adrenodoxin + H(2)O.
Cofactor
Name=heme; Xref=ChEBI:CHEBI:30413; Evidence={ECO:0000250|UniProtKB:P19099};
Disease
Adrenal hyperplasia 4 (AH4) [MIM:202010]: A form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: 'salt wasting' (SW, the most severe type), 'simple virilizing' (SV, less severely affected patients), with normal aldosterone biosynthesis, 'non-classic form' or late- onset (NC or LOAH)and 'cryptic' (asymptomatic). {ECO:0000269|PubMed:16046588, ECO:0000269|PubMed:2022736, ECO:0000269|PubMed:20331679, ECO:0000269|PubMed:20947076, ECO:0000269|PubMed:9302260}. 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
Has steroid 11-beta-hydroxylase activity. In addition to this activity, the 18 or 19-hydroxylation of steroids and the aromatization of androstendione to estrone have also been ascribed to cytochrome P450 XIB.
Similarity
Belongs to the cytochrome P450 family. {ECO:0000305}.
Subcellular Location
Mitochondrion membrane.
MitoProteome Human Mitochondrial Protein Database
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