Rabbit anti-Human NPC1 Polyclonal Antibody | anti-NPC1 antibody

NPC1 Antibody

Cat. Num. AAA9412573

• Gene Names: NPC1; NPC
• Reactivity: Human
• Applications: ELISA, Western Blot, Immunohistochemistry
• Purity: Affinity chromatography purified via peptide column
• Synonyms: NPC1; Polyclonal Antibody; NPC1 Antibody; Niemann-Pick disease type C1; NPC; anti-NPC1 antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Purity/Purification: Affinity chromatography purified via peptide column
• Form/Format: Supplied in PBS containing 0.02% sodium azide.
• Sequence Length: 1278

• Applicable Applications for anti-NPC1 antibody: ELISA (EIA), Western Blot (WB), Immunohistochemistry (IHC)
• Immunogen Type: Peptide
• Immunogen Description: Raised against a 16 amino acid peptide from near the carboxy terminus of human NPC1.
• Target Name: NPC1
• Preparation and Storage: Can be stored at -20 degree C, stable for one year. As with all antibodies care should be taken to avoid repeated freeze thaw cycles. Antibodies should not be exposed to prolonged high temperatures.

Western Blot (WB)

(Western blot analysis of NPC1 in human kidney tissue lysate with NPC1 antibody at 1 ug/mL.)

Immunohistochemistry (IHC)

(Immunohistochemistry of NPC1 in mouse kidney tissue with NPC1 antibody at 2.5 ug/mL.)

Related Product Information for anti-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.

Product Categories/Family for anti-NPC1 antibody

Total protein Ab

NCBI and Uniprot Product Information

• NCBI GI #: 255652944
• NCBI GeneID: 4864
• NCBI Accession #: NP_000262
• NCBI GenBank Nucleotide #: NM_000271.4
• Molecular Weight: 107,025 Da
• NCBI Official Full Name: Niemann-Pick C1 protein
• NCBI Official Synonym Full Names: Niemann-Pick disease, type C1
• NCBI Official Symbol: NPC1
• NCBI Official Synonym Symbols: NPC
• NCBI Protein Information: Niemann-Pick C1 protein
• UniProt Protein Name: Niemann-Pick C1 protein
• Protein Family: Niemann-Pick C1 protein
• UniProt Gene Name: NPC1
• UniProt Entry Name: NPC1_HUMAN

NCBI Description

This gene encodes 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. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.[provided by RefSeq, Aug 2009]

Uniprot Description

NPC1: Intracellular cholesterol transporter which acts in concert with NPC2 and plays an important role in the egress of cholesterol from the endosomal/lysosomal compartment. Both NPC1 and NPC2 function as the cellular 'tag team duo' (TTD) to catalyze the mobilization of cholesterol within the multivesicular environment of the late endosome (LE) to effect egress through the limiting bilayer of the LE. NPC2 binds unesterified cholesterol that has been released from LDLs in the lumen of the late endosomes/lysosomes and transfers it to the cholesterol-binding pocket of the N-terminal domain of NPC1. Cholesterol binds to NPC1 with the hydroxyl group buried in the binding pocket and is exported from the limiting membrane of late endosomes/ lysosomes to the ER and plasma membrane by an unknown mechanism. Binds oxysterol with higher affinity than cholesterol. 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. Defects in NPC1 are the cause of Niemann-Pick disease type C1 (NPC1). A lysosomal storage disorder that affects the viscera and the central nervous system. It is due to defective intracellular processing and transport of low-density lipoprotein derived cholesterol. It causes accumulation of cholesterol in lysosomes, with delayed induction of cholesterol homeostatic reactions. Niemann-Pick disease type C1 has a highly variable clinical phenotype. Clinical features include variable hepatosplenomegaly and severe progressive neurological dysfunction such as ataxia, dystonia and dementia. The age of onset can vary from infancy to late adulthood. An allelic variant of Niemann-Pick disease type C1 is found in people with Nova Scotia ancestry. Patients with the Nova Scotian clinical variant are less severely affected. Belongs to the patched family.

Protein type: Membrane protein, integral; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 18q11.2

Cellular Component: Golgi apparatus; membrane; lysosome; lysosomal membrane; integral to plasma membrane; perinuclear region of cytoplasm; endoplasmic reticulum; late endosome membrane; integral to membrane; extracellular region; nuclear envelope; lipid raft

Molecular Function: protein binding; transmembrane receptor activity; sterol transporter activity; hedgehog receptor activity; cholesterol binding; receptor activity

Biological Process: response to drug; cholesterol metabolic process; lysosomal transport; cholesterol transport; bile acid metabolic process; protein amino acid glycosylation; endocytosis; cholesterol efflux; signal transduction; adult walking behavior; negative regulation of macroautophagy; cholesterol homeostasis; response to cadmium ion; autophagy; lipid raft organization and biogenesis

Disease: Niemann-pick Disease, Type C1