Retina International's Scientific Newsletter
The Protein Pages Rab Escort Protein (REP) To see compiled data on further species click on the topics. To see the reference for the human data click on the data

Recent update from: 22.06.00

Description Rab Escort Proteins (REP) are the carrier proteins escorting Small GTP-binding proteins to the catalytic dimer GGTase II (7). Both isoforms (4) are distributed ubiquitous in the body. The proteins recognize unprenylated Rab proteins, escort them to prenylation, and after prenylation, to their target organelle or protein, thus acting like a GDP Dissociation Inhibitor (GDI) (1). GENE DATA Exons: Protein REP1 15 REP2 1 Markers / RFLPs: Protein REP1 Intron 14 CA-repeat DXS540 DXS165 REP2 D1S58 Transcripts: Protein REP1 5.6 kb REP2 Regulatory Elements: Protein REP1 2 PEST regions REP2 Primers: Protein REP1 Complete REP2 Complete	Assignment: Protein REP1 Xq21.2 REP2 1q42-ter Involvement in Retinal Degenerations: click here to see a compilation of several Mutations found to underlie CHM
PROTEIN DATA
Proteins: Protein REP1 1 REP2 1 Amino acids: Protein REP1 653 AA REP2 656 AA	Modifications: Protein REP1 phosphorylated? REP2 Mr/ Weight: Protein REP1 95 kDa REP2 Cofactors: Protein REP1 REP2

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Contact the editor: irpamp@irpa.org	This site is maintained and edited by Dr. rer. medic. Markus Preising, Dipl.Biol. Molecular Genetics Laboratory Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics University of Regensburg Head: Prof. Dr. med. Birgit Lorenz

1. Andres,D.A., Seabra,M.C., Brown,M.S., Armstrong,S.A., Smeland,T.E., Cremers,F.P., and Goldstein,J.L. cDNA cloning of component A of Rab geranylgeranyl transferase and demonstration of its role as a Rab escort protein. 1993; Cell. 73: 1091-1099.
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2. Cremers,F.P., Brunsmann,F., van de Pol,T.J., Pawlowitzki,I.H., Paulsen,K., Wieringa,B., and Ropers,H.H. Deletion of the DXS165 locus in patients with classical choroideremia. 1987; Clin.Genet. 32: 421-423.
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3. Cremers,F.P., van de Pol,D.J., van Kerkhoff,L.P., Wieringa,B., and Ropers,H.H. Cloning of a gene that is rearranged in patients with choroideremia. 1990; Nature. 347: 674-677.
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4. Cremers,F.P.M., Molloy,C.M., van de Pol,D.J.R., van den Hurk,J.A.J.M., Bach,I., van Kessel,A.H.M.G., Ropers,H.H., Cremers,F.P., van de Pol,D.J., van den Hurk,J.A., and Geurts van Kessel,A.H. An autosomal homologue of the choroideremia gene colocalizes with the Usher syndrome type II locus on the distal part of chromosome 1q. 1992; Hum.Mol.Genet. 1: 71-75.
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5. Molloy,C.M., van de Pol,T.J., Brohet,R.M., Ropers,H.H., and Cremers,F.P. Three RFLPs for pZ11 (DXS540) in the choroideremia gene at Xq21.2. 1992; Nucleic.Acids.Res. 20: 1434-1434.
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6. Seabra,M.C., Brown,M.S., Slaughter,C.A., Sudhof,T.C., and Goldstein,J.L. Purification of component A of Rab geranylgeranyl transferase: possible identity with the choroideremia gene product. 1992; Cell. 70: 1049-1057.
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7. Van Bokhoven,H., van den Hurk,J.A., Bogerd,L., Philippe,C., Gilgenkrantz,S., de Jong,P., Ropers,H.H., and Cremers,F.P. Cloning and characterization of the human choroideremia gene. 1994; Hum.Mol.Genet. 3: 1041-1046.
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8. Van Bokhoven,H., van Genderen,C., Ropers,H.H., and Cremers,F.P. Dinucleotide repeat polymorphism within the choroideremia gene at Xq21.2. 1994; Hum.Mol.Genet. 3: 1446-1446.
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9. Van Bokhoven,H., von Genderen,C., Molloy,C.M., van de Pol,D.J., Cremers,C.W., von Aarem,A., Schwartz,M., Rosenberg,T., Geurts van Kessel,A.H., Ropers,H.H., and et al. Mapping of the choroideremia-like (CHML) gene at 1q42-qter and mutation analysis in patients with Usher syndrome type II. 1994; Genomics. 19: 385-387.
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