Aliases for CYP11A1 Gene
External Ids for CYP11A1 Gene
Previous HGNC Symbols for CYP11A1 Gene
Previous GeneCards Identifiers for CYP11A1 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 catalyzes the conversion of cholesterol to pregnenolone, the first and rate-limiting step in the synthesis of the steroid hormones. Two transcript variants encoding different isoforms have been found for this gene. The cellular location of the smaller isoform is unclear since it lacks the mitochondrial-targeting transit peptide. [provided by RefSeq, Jul 2008]
GeneCards Summary for CYP11A1 Gene
CYP11A1 (Cytochrome P450, Family 11, Subfamily A, Polypeptide 1) is a Protein Coding gene. Diseases associated with CYP11A1 include 46,xy disorder of sex development - adrenal insufficiency due to cyp11a1 deficiency and inherited isolated adrenal insufficiency due to cyp11a1 deficiency. Among its related pathways are Infectious disease 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 CYP24A1.
UniProtKB/Swiss-Prot for CYP11A1 Gene
Catalyzes the side-chain cleavage reaction of cholesterol to pregnenolone.