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• W2000072353 abstract "Rab geranylgeranyl transferase (GG transferase) is a two-component enzyme that attaches 20-carbon isoprenoid groups to cysteine residues in Rab proteins, a family of guanosine triphosphate-binding proteins that regulate vesicular traffic. The mutant gene in human choroideremia, an X-linked form of retinal degeneration, encodes a protein that resembles component A of rat Rab GG transferase. Lymphoblasts from choroideremia subjects showed a marked deficiency in the activity of component A, but not component B, of Rab GG transferase. The deficiency was more pronounced when the substrate was Rab3A, a synaptic vesicle protein, than it was when the substrate was Rab1A, a protein of the endoplasmic reticulum. The data imply the existence of multiple component A proteins, one of which is missing in choroideremia." @default.
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• W2000072353 date "1993-01-15" @default.
• W2000072353 modified "2023-10-17" @default.
• W2000072353 title "Retinal Degeneration in Choroideremia: Deficiency of Rab Geranylgeranyl Transferase" @default.
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• W2000072353 doi "https://doi.org/10.1126/science.8380507" @default.
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