Niemann-Pick Type C (NPC) disease is a lysosomal storage disorder characterized by accumulation of unesterified cholesterol and other lipids in the endolysosomal system. NPC disease results from a defect in either of two distinct cholesterol-binding proteins: a transmembrane protein, NPC1, and a small soluble protein, NPC2. NPC1 or NPC2 deficiency models showed that the functions of these two proteins within lysosomes are linked closely. NPC1 is a typical transmembrane protein and contains a number of modification sites for glycosylation. Defects in NPC1 are the cause of Niemann-Pick disease type C1 which exhibits highly variable clinical phenotype. Moreover, NPC1 may play a role in vesicular trafficking in glia, a process that may be crucial for maintaining the structural and functional integrity of nerve terminals.
Western Blot: HEK-293 Cells, 1:500-1:5000; IHC: Human Brain Tissue, 1:20-1:200
Type: Primary
Antigen: NPC1
Clonality: Polyclonal
Clone:
Conjugation: Unconjugated
Epitope:
Host: Rabbit
Isotype: IgG
Reactivity: Human