Aliases for CYP11B1 Gene
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, Polypeptide 1) is a Protein Coding gene. Diseases associated with CYP11B1 include 11-beta-hydroxylase-deficient congenital adrenal hyperplasia and adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency. Among its related pathways are Transport to the Golgi and subsequent modification and Metabolism. 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 CYP11A1.
UniProtKB/Swiss-Prot for CYP11B1 Gene
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
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. 22.214.171.124), steroid 11-beta hydroxylase (E.C. 126.96.36.199), and LTB4 omega-hydroxylase (E.C. 188.8.131.52).