Product Information
Protein NameCytochrome P450 11B1 mitochondrial/Cytochrome P450 11B2 mitochondrial
Human Gene Id1584
Human Swiss Prot NoP15538
SpecificityCYP11B1/2 Polyclonal Antibody detects endogenous levels of CYP11B1/2 protein.
FormulationLiquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Concentration1 mg/ml
Storage Stability-20°C/1 year
Other NameCYP11B1; S11BH; Cytochrome P450 11B1, mitochondrial; CYPXIB1; Cytochrome P-450c11; Cytochrome P450C11; Steroid 11-beta-hydroxylase; CYP11B2;Cytochrome P450 11B2, mitochondrial; Aldosterone synthase; ALDOS; Aldosterone-synthesizing enzyme; CYPXIB2; Cytochrome P-450Aldo; Cytochrome P-450C18; Steroid 18-hydroxylase
Observed Band(KD)58
Functioncatalytic activity:A steroid + reduced adrenal ferredoxin + O(2) = an 11-beta-hydroxysteroid + oxidized adrenal ferredoxin + H(2)O.,cofactor:Heme group.,disease:An anti-Lepore-type fusion of the CYP11B1 and CYP11B2 genes is a cause of glucocorticoid-remediable aldosteronism (GRA) [MIM:103900].,disease:Defects in CYP11B1 are the cause of adrenal hyperplasia type 4 (AH4) [MIM:202010]. AH4 is 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, "
Subcellular LocationMitochondrion inner membrane ; Peripheral membrane protein .
ExpressionAdrenal gland,PCR rescued clones,Peripheral blood,
Backgroundcytochrome P450 family 11 subfamily B member 1(CYP11B1) Homo sapiens 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 and is involved in the conversion of progesterone to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008],