Home Antibody All anti-NPC1 antibodies
Also for NPC1 (NM_000271)
|NPC1 antibody was raised against a 16 amino acid peptide from near the carboxy terminus of human NPC1.|
||WB: 1 - 2 ug/ml
|PBS containing 0.02% sodium azide.|
|Affinity chromatography purified via peptide column
|Homo sapiens Niemann-Pick disease, type C1 (NPC1)|
Entrez Gene 4864 Human
|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.|
|TransmembraneDruggable Genome Lysosome|
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Western blot analysis of NPC1 in human kidney tissue lysate with NPC1 antibody at 1 ug/ml.
Immunohistochemistry of NPC1 in mouse kidney tissue with NPC1 antibody at 2.5 ug/ml.