| ELK.No | ES14462 |
| Product name | NPC2 rabbit pAb |
| Reactivity | Human; Mouse |
| Applications | WB |
| Other name | |
| Size | 50μL |
| Unit price ($) | 148 |
| Human gene ID | 10577 |
| Human Swiss-Prot | P61916 |
| Source | Rabbit |
| Isotype | IgG |
| Target | NPC2 |
| Fields | >>Lysosome;>>Cholesterol metabolism |
| Gene name | NPC2 HE1 |
| Protein name | NPC2 |
| Human gene link | View Human Gene |
| Human Swiss link | View Human Swiss-Prot |
| Mouse gene ID | 67963 |
| Mouse gene link | View Mouse Gene |
| Mouse Swiss-Prot | Q9Z0J0 |
| Mouse Swiss link | View Mouse Swiss-Prot |
| Rat gene ID | |
| Rat gene link | |
| Rat Swiss-Prot | |
| Rat Swiss link | |
| Immunogen | Synthesized peptide derived from human NPC2 AA range: 9-59 |
| Specificity | This antibody detects endogenous levels of NPC2 at Human/Mouse |
| Formulation | Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide. |
| Clonality | Polyclonal |
| Dilution | WB 1:500-2000 |
| Purification | The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen. |
| Concentration | 1 mg/ml |
| Storage stability | -20°C/1 year |
| Molecular Weight (Da) | 17kD |
| Observed band (KD) | |
| Background | This gene encodes a protein containing a lipid recognition domain. The encoded protein may function in regulating the transport of cholesterol through the late endosomal/lysosomal system. Mutations in this gene have been associated with Niemann-Pick disease, type C2 and frontal lobe atrophy. [provided by RefSeq, Jul 2008], |
| Function | disease:Defects in NPC2 are the cause of Niemann-Pick disease type C2 (NPC2) [MIM:607625]. NPC2 is a fatal autosomal recessive hereditary disease characterized by the accumulation of low-density lipoprotein-derived cholesterol in lysosomes.,function:May be involved in the regulation of the lipid composition of sperm membranes during the maturation in the epididymis.,similarity:Belongs to the NPC2 family.,tissue specificity:Epididymis., |
| Subcellular location | Secreted . Endoplasmic reticulum . Lysosome . Interaction with cell-surface M6PR mediates endocytosis and targeting to lysosomes. . |
| Expression | Detected in gallbladder bile (PubMed:21315718). Detected in fibroblasts, kidney, liver, spleen, small intestine, placenta and testis (at protein level) (PubMed:11125141). Epididymis. |

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