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Gene : NPC1 Homo sapiens

Name  ? NPC intracellular cholesterol transporter 1 Cytological Location  18q11.2
Brief Description  NPC intracellular cholesterol transporter 1
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.[provided by RefSeq, Aug 2009]
  • synonyms:
  • AF002020,
  • SLC65A1,
  • NPC1,
  • NM_000271,
  • HGNC:7897,
  • uc002kum.5,
  • NPC,
  • OTTHUMG00000131873,
  • Niemann-Pick disease, type C1,
  • POGZ,
  • SLC65A1
  • identifiers:
  • 4864,
  • ENSG00000141458,
  • NPC1

Genome feature

Region: gene ? Length: 80434  
Location: 18:23506184-23586617 reverse strand Cyto location: 18q11.2

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Gene -> HPO annotation (Human Phenotype Ontology)

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1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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2011 SN Ps

5 Cross References

20 Data Sets

9 Homologues

0 Located Features

90 Rna Seq Results