NPC1 Antibody

Product Specifications

Background

NPC1 Antibody: 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.

NCBI Gene ID

4864

Swiss Prot

O15118

Accession Number

NP_000262

Host

Rabbit

Reactivity

Human, Mouse

Clonality

Polyclonal

Conjugation

Unconjugated

Type

Primary Antibodies

Field of Research

Obesity

Purification

NPC1 Antibody is affinity chromatography purified via peptide column.

Positive Control

Cat. No. 1211 - HepG2 Cell Lysate

Concentration

1 mg/mL

Homology

Predicted species reactivity based on immunogen sequence: Pig: (87%)

Buffer

NPC1 Antibody is supplied in PBS containing 0.02% sodium azide.

Modification

None

Shipping Conditions

Blue Ice

Storage Conditions

NPC1 antibody can be stored at 4˚ C, stable for up to one year. Antibodies should not be exposed to prolonged high temperatures.

Fragment

IgG

Symbol

NPC1

NCBI Official Name

Niemann-Pick disease, type C1

NCBI Organism

Homo sapiens

Background Reference 01

Karten B, Peake KB, and Vance JE. Mechanisms and consequences of impaired lipid trafficking in Niemann-Pick type C1-deficient mammalian cells. Biochim. Biophys. Acta2009; 1791:656-70.

Background Reference 02

Carstea ED, Polymeropoulos MH, Parker CC, et al. Linkage of Niemann-Pick disease type C to human chromosome 18. Proc. Natl. Acad. Sci. USA1993; 90:2002-4.

Background Reference 03

Carstea ED, Morris JA, Coleman KG, et al. Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. Science1977; 277:228-31.

Background Reference 04

Garver WS and Heidenreich RA. The Niemann-Pick C proteins and trafficking of cholesterol through the late endosomal/lysosomal system. Curr. Mol. Med.2002; 2:485-505.