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SPTBN4
| Detection range: | 0.156-10ng/mL |
| Sensitivity: | 0.063ng/mL |
| Type: | Traditional SPTβN4 ELISA kit |
| Synonyms: | QV; SPNB4; SPTBN3; Beta-IV spectrin; Spectrin, non-erythroid beta chain 3 |
| Species: | Human |
| Sample type: | tissue homogenates, cell lysates or other biological fluids. |
| Experimental method: | Sandwich |
| Shelf life: | 12 months |
| Gene ID: | 57731 |
| UniProt ID: | Q9H254 |
| Components: | 1. Pre-coated, ready to use 96-well strip plate 1 2. Plate sealer for 96 wells 2 3. Standard 2 4. Diluents buffer: 1×45 mL 5. Detection Reagent A: 1×120 μL 6. Detection Reagent B: 1×120 μL 7. TMB Substrate: 1×9 mL 8. Stop Solution: 1×6 mL 9. Wash Buffer (30× concentrate): 1×20 mL |
Background
This gene encodes an aldo-keto reductase that catalyzes the NADPH-dependent reduction of pteridine derivatives and is important in the biosynthesis of tetrahydrobiopterin (BH4). Mutations in this gene result in DOPA-responsive dystonia due to sepiaterin reductase deficiency. A pseudogene has been identified on chromosome 1.
