Cited by 337Retinal Development and DisordersCellular transport and secretionLysosomal Storage Disorders Research

Retinal degeneration in choroideremia: deficiency of rab geranylgeranyl transferase

Seabra, Miguel C., Brown, Michael S., Goldstein, Joseph L.·1993·Science

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.

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Crossref · 10.1126/science.8380507

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Authors
Seabra, M. C., Brown, M. S., & Goldstein, J. L.
Affiliations
The University of Texas Southwestern Medical Center (US)
Venue
Science
Published
1993-01-15
Volume
259
Issue
5093
Pages
377-381
ISSN
  • 0036-8075 (ISSN-L)
  • 1095-9203
OpenAlex
W2000072353
Cited by
337
References
27
Citations by year
2026: 5 · 2025: 5 · 2024: 9 · 2023: 7 · 2022: 8 · 2021: 13 · 2020: 16 · 2019: 15 · 2018: 12 · 2017: 13 · 2016: 8 · 2015: 9 · 2014: 12 · 2013: 7 · 2012: 5
FWCI
10.18
Type
journal article
Language
en
Open access
closed
Locations
  • Science (publishedVersion)
  • PubMed (publishedVersion)
Funders
National Heart, Lung, and Blood Institute (HL-20948, P01HL020948)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Cellular transport and secretion
  • Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
Keywords
choroideremia, retinal degeneration, Rab3A, Rab1A, isoprenoid modification, X-linked inheritance, vesicle trafficking, lymphoblasts
MeSH terms
Adult, Cell Line, Transformed, Cells, Cultured, Choroid, Female, Humans, Lymphocyte Activation, Male, Middle Aged, Mutation, Nerve Tissue Proteins, Photoreceptor Cells, Pigment Epithelium of Eye, Retina, Substrate Specificity, Transferases, Choroideremia, Gene Expression Regulation, Enzymologic, Protein Prenylation, GTP-Binding Proteins, Alkyl and Aryl Transferases, rab3 GTP-Binding Proteins, rab1 GTP-Binding Proteins

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