Retinal degeneration in choroideremia

Deficiency of Rab geranylgeranyl transferase

Research output: Contribution to journalArticle

231 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)377-381
Number of pages5
JournalScience
Volume259
Issue number5093
StatePublished - Jan 15 1993

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Choroideremia
Retinal Degeneration
rab1 GTP-Binding Proteins
Proteins
Synaptic Vesicles
Terpenes
Guanosine Triphosphate
Endoplasmic Reticulum
Cysteine
Carrier Proteins
Carbon
Rab geranylgeranyltransferase
Enzymes
Genes

ASJC Scopus subject areas

  • General

Cite this

Retinal degeneration in choroideremia : Deficiency of Rab geranylgeranyl transferase. / Seabra, Miguel C.; Brown, Michael S.; Goldstein, Joseph L.

In: Science, Vol. 259, No. 5093, 15.01.1993, p. 377-381.

Research output: Contribution to journalArticle

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