NPC1 polyclonal, anti-human

Protein Family: Enzymes

Pathway and Disease: Signaling Molecules and Interaction

Description:
Mutations in the Niemann-Pick disease type C1 (NPC1) gene result in a fatal progressive neurodegenerative disorder characterized by an abnormal sequestration of lipids including cholesterol and glycosphingolipids. The NPC1 protein is a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. NPC1 transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. NPC1, in addition to FTO, MC4R, and PTER has recently been shown to be a new risk loci for early-onset and morbid adult obesity in European populations. This anti-NPC1 antibody will not cross-react to NPC2, another gene whose defects also result in Niemann-Pick type C disease.

Alternate Names: NPC1, Niemann-Pick disease type C1, NPC

Application Notes: E: 1:500-1:1,000; WB: 1:100-1:500; IHC: 1:100-1:500

Accession No.: NP_000262

Antigen: KLH-conjugated synthetic peptide encompassing a sequence within human NPC1.

Format: Each vial contains 0.1 ml IgG in PBS pH 7.4 with 0.02% sodium azide. Antibody was purified by immunogen affinity chromatography.

Storage:
Store at -20°C. Minimize freeze-thaw cycles. Product is guaranteed one year from the date of shipment.