Immunogen
Synthesized peptide derived from human AK1D1 AA range: 258-308
Specificity
This antibody detects endogenous levels of AK1D1 at Human/Mouse/Rat
Source
Polyclonal, Rabbit,IgG
Formulation
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Dilution rate
WB 1：500-2000
Purification process (Immunogen)
The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.
Background
The enzyme encoded by this gene is responsible for the catalysis of the 5-beta-reduction of bile acid intermediates and steroid hormones carrying a delta(4)-3-one structure. Deficiency of this enzyme may contribute to hepatic dysfunction. Three transcript variants encoding different isoforms have been found for this gene. Other variants may be present, but their full-length natures have not been determined yet. [provided by RefSeq, Jul 2010],
Function
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 subs
Fields
>>Primary bile acid biosynthesis;>>Steroid hormone biosynthesis;>>Metabolic pathways
Human protein sequence Database
P51857
Mouse protein sequence database
Q8VCX1
Rat protein sequence database
P31210
Cellular localization
Cytoplasm .
Tissue expression
Highly expressed in liver. Expressed in testis and weakly in colon.
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