| Source: | Rabbit | Gene Id: | |
| Isotype: | IgG | Swiss Prot: | |
| purity: | Purified by Protein A. |
| Background: |
| NPC2 is a secreted protein mapping against gene 14q24.3 (1,2). NPC2 regulates the lipid composition of sperm membranes during maturation in the epididymis(1,2). Mutations in the NPC2 gene may cause Nieman-Pick type C2 disease and frontal lobe atrophy (1,2,3). Nieman-Pick type C2 is a fatal hereditary disease characterized by defective lysosome release of cholesterol (3). The disease is caused by HE1 deficiency, a lysosmal protein proven to be undetectable in fibroblasts from NPC2 patients (3). This differentiates NPC2 from NPC1, as NPC1 has HE1 protein present (3). |
| Reactivity | Human, Mouse, Rat |
| Tested applications | WB IHC IF |
| Clonality | Polyclonal Antibody |
| Calculated MW | / |
| Recommended Dilutions |
WB 1:100-1:1000
IHC 1:100-1:500
IF 1:50-1:200
|
| Immunogen | KLH conjugated synthetic peptide derived from human Niemann Pick C2 |
| Storage | Aqueous buffered solution containing 100ug/ml BSA, 50% glycerol and 0.09% sodium azide. Store at -20℃ for 12 months |
| Synonym | EDDM1, Epididymal protein 1, Epididymal secretory protein, Epididymal secretory protein E1, HE1, Human epididymis-specic protein 1, Niemann-Pick disease type C2, Niemann-Pick disease type C2 protein, NPC2, NPC2_HUMAN, Tissue specic secretory protein. |
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