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Disease Database

Other Diseases

Recent update from: 24.03.2010

This site is maintained and edited by
Dr. rer. medic. Markus Preising, Dipl.Biol.
Laboratory of Molecular Ophthalmology
Department of Opthalmology
Justus-Liebig-University, Giessen, Germany
Head: Prof. Dr. med. Birgit Lorenz

This site includes links which are off influence of Retina International and do not neccessarily reflect the opinion of Retina International. Therefore, we refrain from any responsibility for these external links.

Disease Gene locus MIM Gene Gene MIM MoI Assignment

Linked Marker [cM] Remarks References
Abetalipoproteinemia ABL 200100 MTP 157147 ar 4q22-24

Choroideremia CHM 303100 REP1 300390 xl Xq21.2

Gyrate atrophy GA 258870 OAT
ar 10q26

MoI = Mode of Inheritance: a: autosomal, ad: autosomal dominant, ar: autosomal recessive, xl: x-linked, mt: mitochondrial


  1. Barrett,D.J., Bateman,J.B., Sparkes,R.S., Mohandas,T., Klisak,I., and Inana,G. Chromosomal localization of human ornithine aminotransferase gene sequences to 10q26 and Xp11.2. 1987; Invest.Ophthalmol.Vis.Sci. 28: 1037-1042.
    Link Goto Top
  2. 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.
    Link Goto Top
  3. Mashima,Y., Weleber,R.G., Kennaway,N.G., and Inana,G. A single-base change at a splice acceptor site in the ornithine aminotransferase gene causes abnormal RNA splicing in gyrate atrophy. 1992; Hum.Genet. 90: 305-307.
    Link Goto Top
  4. Mitchell,G.A., Labuda,D., Fontaine,G., Saudubray,J.M., Bonnefont,J.P., Lyonnet,S., Brody,L.C., Steel,G., Obie,C., and Valle,D. Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation. 1991; Proc.Natl.Acad.Sci.U.S.A. 88: 815-819.
    Link Goto Top
  5. Mitchell,G.A., Looney,J.E., Brody,L.C., Steel,G., Suchanek,M., Engelhardt,J.F., Willard,H.F., and Valle,D. Human ornithine-delta-aminotransferase. cDNA cloning and analysis of the structural gene. 1988; J.Biol.Chem. 263: 14288-14295.
    Link Goto Top
  6. Narcisi,T.M., Shoulders,C.C., Chester,S.A., Read,J., Brett,D.J., Harrison,G.B., Grantham,T.T., Fox,M.F., Povey,S., and de Bruin,T.W. Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia. 1995; Am.J.Hum.Genet. 57: 1298-1310.
    Link Goto Top
  7. Park,J.K., O'Donnell,J.J., Shih,V.E., Gusella,J.F., and Ramesh,V. A 15-bp deletion in exon 5 of the ornithine aminotransferase (OAT) locus associated with gyrate atrophy. 1992; Hum.Mutat. 1: 293-297.
    Link Goto Top
  8. 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.
    Link Goto Top
  9. Seabra,M.C., Ho,Y.K., and Anant,J.S. Deficient geranylgeranylation of Ram/Rab27 in choroideremia. 1995; J.Biol.Chem. 270: 24420-24427.
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