Retinal Degeneration in Choroideremia: Deficiency of Rab Geranylgeranyl Transferase

作者：Miguel C. Seabra, Michael Scott Brown, Joseph L. Goldstein · 发表于：Science · 年份：1993 · DOI：10.1126/science.8380507 · 被引用次数：338 · 研究领域：Cellular transport and secretion、Retinal Development and Disorders、Biomedical Research and Pathophysiology

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.