| Entrez gene ID | | 1121 |
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| Official gene symbol | | CHM |
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| Full name | | choroideremia (Rab escort protein 1) |
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| Aliases | | ,DXS540,FLJ38564,GGTA,HSD-32,MGC102710,REP-1,TCD, |
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| Gene summary | | This gene encodes component A of the RAB geranylgeranyl transferase holoenzyme. In the dimeric holoenzyme, this subunit binds unprenylated Rab GTPases and then presents them to the catalytic Rab GGTase subunit for the geranylgeranyl transfer reaction. Rab GTPases need to be geranylgeranyled on either one or two cysteine residues in their C-terminus to localize to the correct intracellular membrane. Mutations in this gene are a cause of choroideremia; also known as tapetochoroidal dystrophy (TCD). This X-linked disease is characterized by progressive dystrophy of the choroid, retinal pigment epithelium and retina. Alternative splicing results in multiple transcript variants encoding different isoforms. |
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| Location | | Chromosome: X Locus: Xq21.2 |
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| Gene position | | 85302566 - 85116185 Map Viewer |
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| Gene orientation | | minus |
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| Gene size | | 186382 bp |
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| Gene sequence |
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| OMIM ID | | 300390 |
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