The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
WB: 1/500 - 1/1000. Detects a band of approximately 60 kDa (predicted molecular weight: 60 kDa).
Not yet tested in other applications.
Optimal dilutions/concentrations should be determined by the end user.
Catalyzes the side-chain cleavage reaction of cholesterol to pregnenolone.
Lipid metabolism; C21-steroid hormone metabolism.
Defects in CYP11A1 are a cause of congenital adrenal insufficiency (CAI). Defects in CYP11A1 are a cause of congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]; also known as 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.
Aumo L et al. Functional roles of protein kinase A (PKA) and exchange protein directly activated by 3',5'-cyclic adenosine 5'-monophosphate (cAMP) 2 (EPAC2) in cAMP-mediated actions in adrenocortical cells. Endocrinology151:2151-61 (2010).
Read more (PubMed: 20233795) »