Niemann-Pick disease, type C2 (NPC2), also known as epididymal secretory protein, is a secreted protein mapping against gene 14q24.3. NPC2 regulates the lipid composition of sperm membranes during maturation in the epididymis. 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. The disease is caused by HE1 deficiency, a lysosmal protein proven to be undetectable in fibroblasts from NPC2 patients. This differentiates NPC2 from NPC1, as NPC1 has HE1 protein present.
Informations pour la commande
Nom du produit | Ref. Catalogue | COND. | Prix HT | QTÉ | Favoris | |
Anticorps NPC2 (H-10) | sc-166321 | 200 µg/ml | $316.00 | |||
NPC2 (H-10): m-IgG Fc BP-HRP Kit | sc-540075 | 200 µg Ab; 10 µg BP | $354.00 | |||
NPC2 (H-10): m-IgG2b BP-HRP Kit | sc-549770 | 200 µg Ab; 10 µg BP | $354.00 |