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LDLR
| Detection range: | 0.312-20ng/mL |
| Sensitivity: | 0.118ng/mL |
| Type: | Traditional LDLR ELISA kit |
| Synonyms: | FH; FHC; Familial Hypercholesterolemia |
| Species: | Human |
| Sample type: | tissue homogenates, cell lysates or other biological fluids. |
| Experimental method: | Sandwich |
| Shelf life: | 12 months |
| Gene ID: | 3949 |
| UniProt ID: | P01130 |
| 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
The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. The encoded protein is normally bound at the cell membrane, where it binds low density lipoprotein/cholesterol and is taken into the cell. Lysosomes release the cholesterol, which is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.
