Aliases for CYP11B1 Gene
- Cytochrome P450 Family 11 Subfamily B Member 1 2 3 5
- Cytochrome P450, Subfamily XIB (Steroid 11-Beta-Hydroxylase), Polypeptide 1 2 3
- Cytochrome P450, Family 11, Subfamily B, Polypeptide 1 2 3
- Steroid 11-Beta-Hydroxylase, CYP11B1 3 4
- Cytochrome P450 11B1, Mitochondrial 3 4
- Steroid 11-Beta-Monooxygenase 2 3
- Cytochrome P-450c11 3 4
- Cytochrome P450C11 3 4
- EC 220.127.116.11 4 51
External Ids for CYP11B1 Gene
Previous HGNC Symbols for CYP11B1 Gene
Previous GeneCards Identifiers for CYP11B1 Gene
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]
GeneCards Summary for CYP11B1 Gene
CYP11B1 (Cytochrome P450 Family 11 Subfamily B Member 1) is a Protein Coding gene. Diseases associated with CYP11B1 include Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency and Hyperaldosteronism, Familial, Type I. Among its related pathways are Cytochrome P450 - arranged by substrate type and Metabolism of steroid hormones. Gene Ontology (GO) annotations related to this gene include iron ion binding and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen. An important paralog of this gene is CYP11B2.
UniProtKB/Swiss-Prot Summary for CYP11B1 Gene
A cytochrome P450 monooxygenase involved in the biosynthesis of adrenal corticoids (PubMed:18215163). Catalyzes the hydroxylation of carbon hydrogen bond at 11-beta position of 11-deoxycortisol and 11-deoxycorticosterone/21-hydroxyprogesterone yielding cortisol or corticosterone, respectively (PubMed:18215163). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate and reducing the second into a water molecule. Two electrons are provided by NADPH via a two-protein mitochondrial transfer system comprising flavoprotein FDXR (adrenodoxin/ferredoxin reductase) and nonheme iron-sulfur protein FDX1 or FDX2 (adrenodoxin/ferredoxin) (PubMed:18215163).
Hydroxylases are enzymes that catalyze the addition of hydroxyl groups to substrates during oxidation reactions. This diverse group of enzymes includes tryptophan hydroxylase (E.C. 18.104.22.168), steroid 11-beta hydroxylase (E.C. 22.214.171.124), and LTB4 omega-hydroxylase (E.C. 126.96.36.199).