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Science. 1993 Jan 15;259(5093):377-81.

Retinal degeneration in choroideremia: deficiency of rab geranylgeranyl transferase.

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  • 1Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas 75235.

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.

PMID:
8380507
[PubMed - indexed for MEDLINE]
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