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
- Gene Information
- Related Products
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. |
Protein length : | 100 amino acids |
Molecular Weight : | 36.630kDa inclusive of tags |
Source : | Wheat germ |
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 : | GFANAMYNACRDVEAPSSNDKALGL LCGKDADACNATNWIEYMFNKDNGQ APFTITPVFSDFPVHGMEPMNNATK GCDESVDEVTAPCSCQDCSIVCGPK |
Sequence Similarities : | Belongs to the patched family.Contains 1 SSD (sterol-sensing) domain. |
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; |
Products Types
◆ Recombinant Protein | ||
NPC1-4725H | Recombinant Human NPC1 Protein (Gln23-Asp266), N-His tagged | +Inquiry |
NPC1-1339H | Recombinant Human NPC1 protein, His/FLAG-tagged | +Inquiry |
NPC1-8054Z | Recombinant Zebrafish NPC1 | +Inquiry |
NPC1-29133TH | Recombinant Human NPC1, GST-tagged | +Inquiry |
NPC1-4432H | Recombinant Human NPC1 protein, His-Myc-tagged | +Inquiry |
Related Gene
For Research Use Only. Not intended for any clinical use. No products from Creative BioMart may be resold, modified for resale or used to manufacture commercial products without prior written approval from Creative BioMart.
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