Rab escort protein
Lua error in Module:Infobox_gene at line 33: attempt to index field 'wikibase' (a nil value). Rab escort protein 1 also known as rab proteins geranylgeranyltransferase component A 1 is an enzyme that in humans is encoded by the CHM gene.[1][2]
Contents
Function
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.[2]
Interactions
CHM (gene) has been shown to interact with RAB1A,[3] RAB7A[4][5] and RAB3A.[3][6]
Clinical significance
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.[2]
See also
References
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Further reading
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External links
- GeneReviews/NCBI/NIH/UW entry on Choroideremia
- Rab escort protein 1, human at the US National Library of Medicine Medical Subject Headings (MeSH)
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