Price range: $268.00 through $328.00
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],
| Size | 50μL/100μL |
| Target | AK1D1 |
| Reactivity | Human, Mouse, Rat |
| Applications | WB |
| MW(Calculated) | 36kD |
| MW(Observed) | |
| Host Species | Rabbit |
| Isotype | IgG |
| Conjugate/Modification | Unmodified |
| Recommended Dilution Ratio | WB 1:500-2000 |
| Formulation | Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide. |
| Purification | The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen. |
| Storage | -15°C to -25°C/1 year(Do not lower than -25°C) |
| Concentration | 1 mg/ml |
| Clonality | Polyclonal |
| Clone Number | |
| Immunogen | Synthesized peptide derived from human AK1D1 AA range: 258-308 |
| Specificity | This antibody detects endogenous levels of AK1D1 at Human/Mouse/Rat |
| Gene Name | AKR1D1 SRD5B1 |
| Protein Name | AK1D1 |
| Other Name | |
| Species | Human |
| Gene ID | 6718 |
| Uniprot | P51857, |
| Species.1 | Mouse |
| Gene ID.1 | 208665 |
| Uniprot.1 | Q8VCX1, |
| Species.2 | Rat |
| Gene ID.2 | 192242 |
| Uniprot.2 | P31210 |
| Cellular Localization | Cytoplasm . |
| Tissue Expression | Highly expressed in liver. Expressed in testis and weakly in colon. |
| Signaling_pathway | |
| Research Areas | >>Primary bile acid biosynthesis; / >>Steroid hormone biosynthesis; / >>Metabolic pathways |
| 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 substrates.,similarity:Belongs to the aldo/keto reductase family.,tissue specificity:Highly expressed in liver. Expressed in testis and weakly in colon., |
