Supplied in Phosphate Buffered Saline, pH 7.30, with 0.02% Sodium Azide and 50% Glycerol.
Storage:
Shipped at 4°C. Upon delivery aliquot and store at -20°C. Avoid freeze / thaw cycles.
Target
Function:
Catalyzes the side-chain cleavage reaction of cholesterol to pregnenolone.
Involvement in Disease:
Adrenal insufficiency, congenital, with 46,XY sex reversal: A rare disorder that can present as acute adrenal insufficiency in infancy or childhood. ACTH and plasma renin activity are elevated and adrenal steroids are inappropriately low or absent; the 46,XY patients have female external genitalia, sometimes with clitoromegaly. The phenotypic spectrum ranges from prematurity, complete underandrogenization, and severe early-onset adrenal failure to term birth with clitoromegaly and later-onset adrenal failure. Patients with congenital adrenal insufficiency do not manifest the massive adrenal enlargement typical of congenital lipoid adrenal hyperplasia.