Organization of the Rab‐GDI/CHM Superfamily: The Functional Basis for Choroideremia Disease
Open Access
- 1 August 2001
- Vol. 2 (8) , 532-543
- https://doi.org/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.Keywords
This publication has 107 references indexed in Scilit:
- Different Rab GTPases Associate Preferentially with α or β GDP-Dissociation InhibitorsBiochemical and Biophysical Research Communications, 2001
- The mammalian Rab family of small GTPases: definition of family and subfamily sequence motifs suggests a mechanism for functional specificity in the Ras superfamily 1 1Edited by M. YanivJournal of Molecular Biology, 2000
- A practical diagnostic test for choroideremiaOphthalmology, 1998
- Mouse Choroideremia Gene Mutation Causes Photoreceptor Cell Degeneration and is not Transmitted through the Female GermlineHuman Molecular Genetics, 1997
- Deficient Geranylgeranylation of Ram/Rab27 in ChoroideremiaJournal of Biological Chemistry, 1995
- Partial albinism with immunodeficiency (Griscelli syndrome)The Journal of Pediatrics, 1994
- Mutation spectrum in the CHM gene of Danish and Swedish choroideremia patientsHuman Molecular Genetics, 1994
- SNAP receptors implicated in vesicle targeting and fusionNature, 1993
- MRS6 — yeast homologue of the choroideraemia geneNature Genetics, 1993
- Cloning of a gene that is rearranged in patients with choroideraemiaNature, 1990