|ELISA (ELISA)||Assay Dependent|
|Immunocytochemistry (ICC)||Assay Dependent|
|Immunofluorescence (IF)||Assay Dependent|
|Western Blot (WB)||Assay Dependent|
|Western Blot (WB)||See 3 publications below|
|Tested Species reactivity||Human|
|Published species reactivity||Human|
|Host / Isotype||Mouse / IgG1|
|Immunogen||Fragments of Human NPC1 conjugated to a carrier protein.|
|Storage buffer||PBS, pH 7.4|
|Contains||0.1% sodium azide|
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: Niemann-Pick C1 protein; Niemann-Pick disease, type C1; NPC; truncated Niemann-Pick C1
Gene Aliases: NPC; NPC1
UniProt ID: (Human) O15118
Entrez Gene ID: (Human) 4864
Molecular Function: receptor
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