Niemann-Pick C2 (NPC2) and intracellular cholesterol trafficking

Biochim Biophys Acta. 2009 Jul;1791(7):671-8. doi: 10.1016/j.bbalip.2009.02.001. Epub 2009 Feb 13.

Abstract

Cholesterol is an important precursor for numerous biologically active molecules, and it plays a major role in membrane structure and function. Cholesterol can be endogenously synthesized or exogenously taken up via the endocytic vesicle system and subsequently delivered to post-endo/lysosomal sites including the plasma membrane and the endoplasmic reticulum. Niemann-Pick C (NPC) disease results in the accumulation of exogenously-derived cholesterol, as well as other lipids, in late endosomes and lysosomes (LE/LY). Identification of the two genes that underlie NPC disease, NPC1 and NPC2, has focused attention on the mechanisms by which lipids, in particular cholesterol, are transported out of the LE/LY compartment. This review discusses the role of the NPC2 protein in cholesterol transport, and the potential for concerted action of NPC1 and NPC2 in regulating normal intracellular cholesterol homeostasis.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Biological Transport
  • Carrier Proteins / chemistry
  • Carrier Proteins / genetics
  • Carrier Proteins / physiology*
  • Cholesterol / metabolism*
  • Endosomes / physiology
  • Glycoproteins / chemistry
  • Glycoproteins / genetics
  • Glycoproteins / physiology*
  • Humans
  • Molecular Sequence Data
  • Sequence Alignment
  • Vesicular Transport Proteins

Substances

  • Carrier Proteins
  • Glycoproteins
  • NPC2 protein, human
  • Vesicular Transport Proteins
  • Cholesterol