Organization of the Rab-GDI/CHM superfamily: the functional basis for choroideremia disease

Traffic. 2001 Aug;2(8):532-43. doi: 10.1034/j.1600-0854.2001.20803.x.

Abstract

Choroideremia is an X-chromosome-linked disease that leads to the degeneration of the choriocapillaris, the retinal pigment epithelium and the photoreceptor layer in the eye. The gene product defective in choroideremia, CHM, is identical to Rab escort protein 1 (REP1). CHM/REP1 is an essential component of the catalytic geranylgeranyltransferase II complex (GGTrII) that delivers newly synthesized small GTPases belonging to the RAB gene family to the catalytic complex for post-translational modification. CHM/REP family members are evolutionarily related to members of the guanine nucleotide dissociation inhibitor (GDI) family, proteins involved in the recycling of Rab proteins required for vesicular membrane trafficking through the exocytic and endocytic pathways, forming the GDI/CHM superfamily. Biochemical and structural analyses have now revealed a striking parallel in the organization and function of these two families allowing us to generate a general model for GDI/CHM superfamily function in health and disease.

Publication types

  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Alkyl and Aryl Transferases*
  • Catalysis
  • Choroideremia / metabolism*
  • Endocytosis
  • Endoplasmic Reticulum / metabolism
  • GTP Phosphohydrolases / metabolism
  • Golgi Apparatus / metabolism
  • Humans
  • Models, Biological
  • Models, Molecular
  • Multigene Family
  • Mutation
  • Protein Binding
  • Protein Isoforms
  • Protein Structure, Tertiary
  • rab GTP-Binding Proteins / chemistry*
  • rab GTP-Binding Proteins / metabolism*

Substances

  • Adaptor Proteins, Signal Transducing
  • CHM protein, human
  • Protein Isoforms
  • Alkyl and Aryl Transferases
  • GTP Phosphohydrolases
  • rab GTP-Binding Proteins