Article
Retinal degeneration in choroideremia: deficiency of rab geranylgeranyl transferase.
Science (New York, N.Y.) - 15 Jan 1993
Seabra M C, Brown M S, Goldstein J L
Abstract excerpt
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 o...
Topics
- Adult
- Alkyl and Aryl Transferases
- Cell Line, Transformed
- Cells, Cultured
- Choroid
- Choroideremia
- Female
- GTP-Binding Proteins
- Gene Expression Regulation, Enzymologic
- Humans
- Lymphocyte Activation
- Male
- Middle Aged
- Mutation
- Nerve Tissue Proteins
- Photoreceptor Cells
- Pigment Epithelium of Eye
- Protein Prenylation