Rabbit Niemann-Pick Disease, Type C1 Polyclonal Antibody | anti-NPC1 antibody

Niemann-Pick Disease, Type C1 (NPC1, Niemann-Pick C1, Niemann-Pick C1 Protein Precursor, NPC)

Cat. Num. AAA614975

• Gene Names: NPC1; NPC; FLJ98532
• Reactivity: Hamster, Human, Mouse
• Applications: Western Blot, Immunoprecipitation, Immunohistochemistry, Immunofluorescence
• Purity: Affinity Purified; Purified by immunoaffinity chromatography.
• Synonyms: Niemann-Pick Disease; Type C1; Polyclonal Antibody; Type C1 (NPC1; Niemann-Pick C1; Niemann-Pick C1 Protein Precursor; NPC); Anti -Niemann-Pick Disease; anti-NPC1 antibody

• Host: Rabbit
• Reactivity: Hamster, Human, Mouse
• Clonality: Polyclonal
• Specificity: This antibody is specific for NPC1 protein. Species Crossreactivity: This antibody reacts with human, mouse, and hamster protein.
• Purity/Purification: Affinity Purified; Purified by immunoaffinity chromatography.
• Form/Format: Supplied as a liquid in PBS, pH 7.2.

• Applicable Applications for anti-NPC1 antibody: Western Blot (WB), Immunoprecipitation (IP), Immunohistochemistry (IHC), Immunofluorescence (IF)
• Application Notes: Suitable for use in Immunofluorescence, Western Blot, Immunoprecipitation and Immunohistochemistry.; Dilution: Western Blot: Detecting heterogeneously glycosylated NPC1 protein with prominent bands at 170 and 220kD.
• Immunogen: A synthetic peptide made to the C-terminal region of human NPC1.
• Positive Control: Human fibroblast cell lysate
• Preparation and Storage: May be stored at 4 degree C for short-term only. For long-term storage and to avoid repeated freezing and thawing, aliquot and store at -20 degree C. Aliquots are stable for at least 12 months at -20 degree C. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap. Further dilutions can be made in assay buffer.

Related Product Information for anti-NPC1 antibody

Niemann-Pick type C1 (NPC1) is a member of a family of genes encoding membrane-bound proteins containing putative sterol sensing domains. NPC1 protein regulates cholesterol transport from late endosomes-lysosomes to other intracellular compartments. NPC1 overexpression increases the rate of trafficking of low density lipoprotein cholesterol to the endoplasmic reticulum and the rate of delivery of endosomal cholesterol to the plasma membrane.

Product Categories/Family for anti-NPC1 antibody

Antibodies; Abs to Disease Markers

NCBI and Uniprot Product Information

• NCBI GI #: 38649260
• NCBI GeneID: 4864
• UniProt Accession #: O15118; Q9P130; Q59GR1
• Molecular Weight: 142,167 Da
• NCBI Official Full Name: Niemann-Pick disease, type C1
• NCBI Official Synonym Full Names: Niemann-Pick disease, type C1
• NCBI Official Symbol: NPC1
• NCBI Official Synonym Symbols: NPC; FLJ98532
• NCBI Protein Information: Niemann-Pick C1 protein; OTTHUMP00000162699
• 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.

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, multi-pass; Membrane protein, integral

Chromosomal Location of Human Ortholog: 18q11.2

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