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Niemann Pick Disease Type C1 (NPC1)

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Niemann Pick Disease Type C1 (NPC1)
CCC L138
HGNC 7897
MGI 1097712
PubMed 11754101
UniProt O15118
Wiki NPC1
NPC1encodes 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.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Niemann Pick Disease Type C1 (NPC1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Niemann Pick Disease Type C1 (NPC1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Niemann Pick Disease Type C1 (NPC1) Polyclonal Antibody Customized Service Offer
Assay Kits SEL138Hu ELISA Kit for Niemann Pick Disease Type C1 (NPC1) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Niemann Pick Disease Type C1 (NPC1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Niemann Pick Disease Type C1 (NPC1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Niemann Pick Disease Type C1 (NPC1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Niemann Pick Disease Type C1 (NPC1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Niemann Pick Disease Type C1 (NPC1) ELISA Kit Customized Service Offer
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  2. "The genomic organization and polymorphism analysis of the human Niemann-Pick C1 gene."Biochem. Biophys. Res. Commun. 261:493-498(1999) [PubMed] [Europe PMC] [Abstract]
  3. "NPC1: complete genomic sequence, mutation analysis, and characterization of haplotypes."Hum. Mutat. 19:30-38(2002) [PubMed] [Europe PMC] [Abstract]
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  5. "DNA sequence and analysis of human chromosome 18." Nature 437:551-555(2005) [PubMed] [Europe PMC] [Abstract]
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  8. "Topological analysis of Niemann-Pick C1 protein reveals that the membrane orientation of the putative sterol-sensing domain is identical to those of 3-hydroxy-3-methylglutaryl-CoA reductase and sterol regulatory element binding protein cleavage-activating protein."J. Biol. Chem. 275:24367-24374(2000) [PubMed] [Europe PMC] [Abstract]
  9. "Integral and associated lysosomal membrane proteins."Traffic 8:1676-1686(2007) [PubMed] [Europe PMC] [Abstract]
  10. "NPC2 facilitates bidirectional transfer of cholesterol between NPC1 and lipid bilayers, a step in cholesterol egress from lysosomes."Proc. Natl. Acad. Sci. U.S.A. 105:15287-15292(2008) [PubMed] [Europe PMC] [Abstract]
  11. "Identification of cholesterol-regulating genes by targeted RNAi screening."Cell Metab. 10:63-75(2009) [PubMed] [Europe PMC] [Abstract]
  12. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
  13. "NPC1/NPC2 function as a tag team duo to mobilize cholesterol."Proc. Natl. Acad. Sci. U.S.A. 105:15223-15224(2008) [PubMed] [Europe PMC] [Abstract]
  14. "Transfer of cholesterol by the NPC team."Cell Metab. 12:105-106(2010) [PubMed] [Europe PMC] [Abstract]
  15. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  16. "Function of the Niemann-Pick type C proteins and their bypass by cyclodextrin."Curr. Opin. Lipidol. 22:204-209(2011) [PubMed] [Europe PMC] [Abstract]
  17. "Structure of N-terminal domain of NPC1 reveals distinct subdomains for binding and transfer of cholesterol."Cell 137:1213-1224(2009) [PubMed] [Europe PMC] [Abstract]
  18. "The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1."Am. J. Hum. Genet. 63:52-54(1998) [PubMed] [Europe PMC] [Abstract]
  19. "Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain."Am. J. Hum. Genet. 65:1252-1260(1999) [PubMed] [Europe PMC] [Abstract]
  20. "Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype."Am. J. Hum. Genet. 65:1321-1329(1999) [PubMed] [Europe PMC] [Abstract]
  21. "NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C."Hum. Genet. 105:10-16(1999) [PubMed] [Europe PMC] [Abstract]
  22. "Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts."J. Med. Genet. 37:707-712(2000) [PubMed] [Europe PMC] [Abstract]
  23. "Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1."Am. J. Hum. Genet. 68:1361-1372(2001) [PubMed] [Europe PMC] [Abstract]
  24. "Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop."Am. J. Hum. Genet. 68:1373-1385(2001) [PubMed] [Europe PMC] [Abstract]
  25. "Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C."Genet. Med. 3:343-348(2001) [PubMed] [Europe PMC] [Abstract]
  26. "Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations."Hum. Genet. 109:24-32(2001) [PubMed] [Europe PMC] [Abstract]
  27. "Identification of novel mutations in the NPC1 gene in German patients with Niemann-Pick C disease."J. Inherit. Metab. Dis. 25:385-389(2002) [PubMed] [Europe PMC] [Abstract]
  28. "Niemann-Pick type C disease: mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts."J. Lipid Res. 43:1908-1919(2002) [PubMed] [Europe PMC] [Abstract]
  29. "Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease."Hum. Mol. Genet. 12:257-272(2003) [PubMed] [Europe PMC] [Abstract]
  30. "Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1."Hum. Mutat. 22:313-325(2003) [PubMed] [Europe PMC] [Abstract]
  31. "Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations."Clin. Genet. 68:245-254(2005) [PubMed] [Europe PMC] [Abstract]
  32. "Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type C."J. Neurol. Neurosurg. Psych. 76:592-595(2005) [PubMed] [Europe PMC] [Abstract]
  33. "Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families."Mol. Genet. Metab. 86:220-232(2005) [PubMed] [Europe PMC] [Abstract]
  34. "Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder?"J. Inherit. Metab. Dis. 29:591-591(2006) [PubMed] [Europe PMC] [Abstract]
  35. "Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia."Am. J. Hum. Genet. 92:392-400(2013) [PubMed] [Europe PMC] [Abstract]