Sidebar
MeCP2
| Detection range: | 0.156-10ng/mL |
| Sensitivity: | 0.065ng/mL |
| Type: | Traditional MECP2 ELISA kit |
| Synonyms: | RTS; AUTSX3; MRX16; MRX79; PPMX; RTT; Rett Syndrome; Mental Retardation,X-linked 16 |
| Species: | Human |
| Sample type: | tissue homogenates, cell lysates or other biological fluids. |
| Experimental method: | Sandwich |
| Shelf life: | 12 months |
| Gene ID: | 4204 |
| UniProt ID: | P51608 |
| 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 a mitochondrial NAD-dependent malic enzyme, a homotetrameric protein, that catalyzes the oxidative decarboxylation of malate to pyruvate. It had previously been weakly linked to a syndrome known as Friedreich ataxia that has since been shown to be the result of mutation in a completely different gene. Certain single-nucleotide polymorphism haplotypes of this gene have been shown to increase the risk for idiopathic generalized epilepsy. Alternatively spliced transcript variants encoding different isoforms found for this gene.
