1121
12662
ENSG00000188419
ENSMUSG00000025531
P24386
Q9QXG2
NM_001362518NM_001362519NM_152579
NM_018818NM_001370788NM_001370789NM_001370790
NP_001349448
n/a
Rab escort protein 1 (REP1) also known as rab proteins geranylgeranyltransferase component A 1 is an enzyme that in humans is encoded by the CHM gene.[5][6]
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.[6]
CHM (gene) has been shown to interact with RAB1A,[7] RAB7A[8][9] and RAB3A.[7][10]
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.[6]
This article on a gene on the human X chromosome and/or its associated protein is a stub. You can help Wikipedia by expanding it.
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