Recombinant Human NPC1

• Cat.No.: NPC1-29132TH
• Product Overview: Recombinant fragment, corresponding to amino acids 151-250 of Human Niemann Pick C1, with an N-terminal proprietary tag, predicted MWt 36.63 kDa

Specification

• Species: Human
• Source: Wheat Germ
• Tag: Non
• Protein Length: 100 amino acids
• 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.
• Molecular Weight: 36.630kDa inclusive of tags
• Form: Liquid
• Purity: Proprietary Purification
• Storage buffer: pH: 8.00Constituents:0.3% Glutathione, 0.79% Tris HCl
• Storage: Shipped on dry ice. Upon delivery aliquot and store at -80oC. Avoid freeze / thaw cycles.
• Sequences of amino acids: GFANAMYNACRDVEAPSSNDKALGLLCGKDADACNATNWIEYMFNKDNGQAPFTITPVFSDFPVHGMEPMNNATKGCDESVDEVTAPCSCQDCSIVCGPK
• Sequence Similarities: Belongs to the patched family.Contains 1 SSD (sterol-sensing) domain.

Gene Information

• Gene Name: NPC1 Niemann-Pick disease, type C1 [ Homo sapiens ]
• Official Symbol: NPC1
• Synonyms: NPC1; Niemann-Pick disease, type C1; Niemann-Pick C1 protein
• Gene ID: 4864
• mRNA Refseq: NM_000271
• Protein Refseq: NP_000262
• MIM: 607623
• Uniprot ID: O15118
• Chromosome Location: 18q11-q12
• Pathway: Lysosome, organism-specific biosystem; Lysosome, conserved biosystem
• Function: hedgehog receptor activity; protein binding; receptor activity; sterol transporter activity; transmembrane signaling receptor activity