The functional effect of pathogenic mutations in Rab escort protein 1.

doi:10.1016/j.mrfmmm.2009.02.015

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Article

The functional effect of pathogenic mutations in Rab escort protein 1.

Mutation research - 1 Jun 2009

Sergeev Y V, Smaoui N, Sui R, Stiles D, Gordiyenko N, Strunnikova N, Macdonald I M

Abstract excerpt

Choroideremia (CHM) is a chorioretinal degeneration with an X-linked pattern of inheritance. Affected males experience progressive atrophy of the choroid, retinal pigment epithelium and retina leading to eventual blindness. The CHM gene encodes Rab escort protein 1 (REP-1). REP-1 is involved in trafficking of Rab proteins in the cell. To date, the majority of reported mutations in the CHM gene cause a complete...

Topics

Adaptor Proteins, Signal Transducing
Adult
Aged
Amino Acid Sequence
Animals
Base Sequence
Cells, Cultured
Choroid
Choroideremia
Codon, Nonsense
DNA Primers
Gene Expression
Humans
Male
Middle Aged

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Models, Molecular

Molecular Sequence Data

Mutation

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Open in PubMed Open full text

Identifiers

PMID: 19427510
DOI: 10.1016/j.mrfmmm.2009.02.015
PMCID: PMC2680797

Genes

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