Rab escort protein 1 (REP1) in intracellular traffic: a functional and pathophysiological overview.
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.
Preising
Markus
M
Department of Pediatric Ophthalmology, Strabismology and Ophthalmogenetics, Klinikum, University of Regensburg, Germany. markus.preising@klinik.uni-regensburg.de
Ayuso
Carmen
C
D048868:Adaptor Proteins, Signal Transducing; D019883:Alkyl and Aryl Transferases / Q000235:genetics / Q000502:physiology*; D000818:Animals; D002451:Cell Compartmentation / Q000502:physiology; D015794:Choroideremia / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D006801:Humans; D010587:Phagocytosis; D017368:Protein Prenylation; D021381:Protein Transport / Q000502:physiology; D020691:rab GTP-Binding Proteins / Q000235:genetics / Q000502:physiology*
D048868:Adaptor Proteins, Signal Transducing; C081787:CHM protein, human; D019883:Alkyl and Aryl Transferases; D020691:rab GTP-Binding Proteins