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Structure and function of the NPC2 protein.

Marie T Vanier1, Gilles Millat

  • 1INSERM Unit 189, Lyon-Sud Medical School and Fondation Gillet-Mérieux, Lyon-Sud University Hospital, 69495- Pierre-Bénite Cedex, France. vanier@lyon.inserm.fr

Biochimica Et Biophysica Acta
|October 7, 2004
PubMed
Summary

Niemann-Pick C disease can be caused by mutations in the NPC2 gene, identified as HE1. This protein binds cholesterol and likely works with NPC1 to manage cholesterol within cells.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Biochemistry

Background:

  • Niemann-Pick C disease is a lysosomal storage disorder.
  • A subset of patients (5%) have a genetic cause distinct from the primary NPC1 gene.
  • The NPC2 gene (HE1) was identified as a cause of Niemann-Pick C disease.

Purpose of the Study:

  • To identify the gene responsible for Niemann-Pick C disease in a minority of patients.
  • To characterize the NPC2 protein and its role in cholesterol metabolism.
  • To elucidate the relationship between NPC1 and NPC2 proteins.

Main Methods:

  • Somatic cell hybridization and linkage studies.
  • Lysosomal proteome analysis.
  • Biochemical characterization of the NPC2 protein, including cholesterol binding and crystallization.

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Main Results:

  • The HE1 gene was identified as the NPC2 gene responsible for Niemann-Pick C disease in 5% of patients.
  • NPC2 is a soluble glycoprotein that binds cholesterol with high affinity.
  • NPC1 and NPC2 proteins appear to function in close coordination for cholesterol export.
  • Mutations in NPC2 show good genotype-phenotype correlation, with biochemical phenotypes indistinguishable from NPC1 mutants.

Conclusions:

  • NPC2 is a crucial gene in cholesterol metabolism and a cause of Niemann-Pick C disease.
  • The NPC2 protein likely facilitates cholesterol binding and transfer to NPC1 for lysosomal export.
  • Further research is needed to fully elucidate the precise function of NPC2 protein.