This gene encodes component A of the RAB geranylgeranylntransferase holoenzyme. In the dimeric holoenzyme, this subunitnbinds unprenylated Rab GTPases and then presents them to thencatalytic Rab GGTase subunit for the geranylgeranyl transfernreaction. Rab GTPases need to be geranylgeranyled on either one orntwo cysteine residues in their C-terminus to localize to thencorrect intracellular membrane. Mutations in this gene are a causenof choroideremia; also known as tapetochoroidal dystrophy (TCD).nThis X-linked disease is characterized by progressive dystrophy ofnthe choroid, retinal pigment epithelium and retina. Alternativensplicing results in multiple transcript variants encoding differentnisoforms.
应用类型
WB
免疫原
This CHM antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 292-320 amino acids from the Central region of human CHM.
