Rab escort protein 1 (REP1) in intracellular traffic: a functional and pathophysiological overview

Ophthalmic Genet. 2004 Jun;25(2):101-10. doi: 10.1080/13816810490514333.

Abstract

The intracellular distribution of proteins, compartments, substrates, and products is an active process called intracellular traffic. Control of intracellular traffic is established by small GTP-binding proteins (Rab proteins). Rab proteins are modified by geranyl-geranyl moieties necessary for membrane association and target-protein recognition. Geranyl-geranyl groups are transferred to Rab proteins by geranyl-geranyl transferase 2 (GGTase2). GGTase2 requires Rab escort protein 1 (REP1) to bind Rab proteins. REP1 null mutations underlie an X-linked retinal degeneration called choroideremia (CHM). This review summarizes the current biochemical and clinical knowledge on REP1 and CHM.

Publication types

  • Review

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Alkyl and Aryl Transferases / genetics
  • Alkyl and Aryl Transferases / physiology*
  • Animals
  • Cell Compartmentation / physiology
  • Choroideremia / diagnosis
  • Choroideremia / genetics
  • Choroideremia / physiopathology*
  • Humans
  • Phagocytosis
  • Protein Prenylation
  • Protein Transport / physiology
  • rab GTP-Binding Proteins / genetics
  • rab GTP-Binding Proteins / physiology*

Substances

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