MyBioSource.com's CHM Polyclonal Antibody is a Rabbit Polyclonal antibody. This antibody has been shown to work in applications such as: Western Blot. The CHM Polyclonal Antibody was generated using CHM, CHML, HSD-32, and REP1 as the antigen and it reacts with Human.
Description
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