靶标:
CHM
产品别名:
DXS540; GGTA; HSD-32; REP-1; TCD; CHM; CHM Rab escort protein; CHM Rab escort protein; rab proteins geranylgeranyltransferase component A 1; CHM, Rab escort protein 1; choroideremia (Rab escort protein 1); 遗传性脉络膜缺乏症相关蛋白;
背景信息:
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. It is mapped to Xq21.2. 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. Alternatively spliced transcript variants have been found for this gene.