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...
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