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SH3BP2
| Detection range: | 0.312-20ng/mL |
| Sensitivity: | 0.126ng/mL |
| Type: | Traditional SH3BP2 ELISA kit |
| Synonyms: | CRBM; RES4-23; Cherubism |
| Species: | Human |
| Sample type: | tissue homogenates or other biological fluids. |
| Experimental method: | Sandwich |
| Shelf life: | 12 months |
| Gene ID: | 6452 |
| UniProt ID: | P78314 |
| 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 the enzyme sulfamidase; one of several enzymes involved in the lysosomal degradation of heparan sulfate. Mutations in this gene are associated with the lysosomal storage disease mucopolysaccaridosis IIIA, also known as Sanfilippo syndrome A, which results from impaired degradation of heparan sulfate. Transcripts of varying sizes have been reported but their biological validity has not been determined.
