AK1D1 rabbit pAb

catalytic activity:17,21-dihydroxy-5-beta-pregnane-3,11,20-trione + NADP(+) = cortisone.,catalytic activity:5-beta-cholestan-3-one + NADP(+) = cholest-4-en-3-one + NADPH.,disease:Defects in AKR1D1 are the cause of congenital bile acid synthesis defect type 2 (CBAS2) [MIM:235555]; also known as cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency. Patients with this liver disease show absence or low levels of chenodeoxycholic acid and cholic acid in plasma and urine.,enzyme regulation:Subject to inhibition by high substrate concentrations. Inhibited by testosterone concentrations above 10 uM.,function:Efficiently catalyzes the reduction of progesterone, androstenedione, 17-alpha-hydroxyprogesterone and testosterone to 5-beta-reduced metabolites. The bile acid intermediates 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one and 7-alpha-hydroxy-4-cholesten-3-one can also act as substrates.,similarity:Belongs to the aldo/keto reductase family.,tissue specificity:Highly expressed in liver. Expressed in testis and weakly in colon.,