产品名称
AK1D1 Rabbit Polyclonal Antibody
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% New type preservative N.
Human Gene Link
https://www.uniprot.org/uniprot/6718
Human Swissprot No.
P51857
Human Swissprot Link
https://www.uniprot.org/uniprotkb/P51857/entry
Mouse Gene Link
https://www.uniprot.org/uniprot/208665
Mouse Swissprot No.
Q8VCX1
Mouse Swissprot Link
https://www.uniprot.org/uniprotkb/Q8VCX1
Rat Gene Link
https://www.uniprot.org/uniprot/192242
Rat Swissprot Link
https://www.uniprot.org/uniprotkb/P31210
免疫原
Synthesized peptide derived from human AK1D1 AA range: 258-308
特异性
This antibody detects endogenous levels of AK1D1 at Human/Mouse/Rat
宿主
Polyclonal, Rabbit,IgG
背景介绍
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],
组织表达
Highly expressed in liver. Expressed in testis and weakly in colon.
功能
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.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
