Recombinant Human NPC1, GST-tagged

• Cat.No.: NPC1-29133TH
• Product Overview: Recombinant Human NPC1(151 a.a. - 250 a.a.), fused with GST-tag at N-terminal, was expressed in wheat germ.

Specification

• 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.
• Source: Wheat germ
• Species: Human
• Tag: GST
• Molecular Mass: 36.63 kDa
• AA Sequence: GFANAMYNACRDVEAPSSNDKALGL LCGKDADACNATNWIEYMFNKDNGQ APFTITPVFSDFPVHGMEPMNNATK GCDESVDEVTAPCSCQDCSIVCGPK
• Applications: ELISA; WB-Re; AP; Array
• Storage: Store at -80°C. Aliquot to avoid repeated freezing and thawing.
• Storage Buffer: 50 mM Tris-HCI, 10 mM reduced Glutathione, pH=8.0 in the elution buffer.

Gene Information

• Gene Name: NPC1 Niemann-Pick disease, type C1 [ Homo sapiens (human) ]
• Official Symbol: NPC1
• Synonyms: NPC1; NPC; 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: 18q11.2
• Pathway: Lysosome
• Function: cholesterol binding; hedgehog receptor activity; protein binding