功能： catalytic activity:Cholesterol + reduced adrenal ferredoxin + O(2) = pregnenolone + 4-methylpentanal + oxidized adrenal ferredoxin + H(2)O.,cofactor:Heme group.,disease:Defects in CYP11A1 are a cause of congenital adrenal insufficiency (CAI).,disease:Defects in CYP11A1 are a cause of congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]; also called lipoid CAH. CLAH is the most severe form of adrenal hyperplasia. This autosomal recessive and potentially lethal condition includes the onset of profound adrenocortical insufficiency shortly after birth, hyperpigmentation reflecting increased production of pro-opiomelanocortin, elevated plasma renin activity as a consequence of reduced aldosterone synthesis, and male pseudohermaphroditism resulting from deficient fetal testicular testosterone synthesis. CLAH is a rare disease, except in Japan and Korea where it accounts for a significant percentage of cases of congenital adrenal hyperplasia.,function:Catalyzes the side-chain cleavage reaction of cholesterol to pregnenolone.,induction:By 8-bromo cyclic AMP.,pathway:Lipid metabolism; C21-steroid hormone metabolism.,similarity:Belongs to the cytochrome P450 family.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Mitochondrion inner membrane ; Peripheral membrane protein . Localizes to the matrix side of the mitochondrion inner membrane. .
功能： catalytic activity:Cholesterol + reduced adrenal ferredoxin + O(2) = pregnenolone + 4-methylpentanal + oxidized adrenal ferredoxin + H(2)O.,cofactor:Heme group.,disease:Defects in CYP11A1 are a cause of congenital adrenal insufficiency (CAI).,disease:Defects in CYP11A1 are a cause of congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]; also called lipoid CAH. CLAH is the most severe form of adrenal hyperplasia. This autosomal recessive and potentially lethal condition includes the onset of profound adrenocortical insufficiency shortly after birth, hyperpigmentation reflecting increased production of pro-opiomelanocortin, elevated plasma renin activity as a consequence of reduced aldosterone synthesis, and male pseudohermaphroditism resulting from deficient fetal testicular testosterone synthesis. CLAH is a rare disease, except in Japan and Korea where it accounts for a significant percentage of cases of congenital adrenal hyperplasia.,function:Catalyzes the side-chain cleavage reaction of cholesterol to pregnenolone.,induction:By 8-bromo cyclic AMP.,pathway:Lipid metabolism; C21-steroid hormone metabolism.,similarity:Belongs to the cytochrome P450 family.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Mitochondrion inner membrane ; Peripheral membrane protein . Localizes to the matrix side of the mitochondrion inner membrane. .
在线咨询
湘公网安备