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.

Suitable for use in Western Blot and FLISA. Other applications have not been tested.

Optimal dilutions to be determined by the researcher.

Store product at 4°C in the dark. DO NOT FREEZE! Stable at 4°C for 12 months after receipt as an undiluted liquid. Dilute required amount only prior to immediate use. Further dilutions can be made in assay buffer. Caution: MaxLight™650 conjugates are sensitive to light. For maximum recovery of product, centrifuge the original vial prior to removing the cap.

Note: Applications are based on unconjugated antibody.

KLH-conjugated synthetic peptide mapping to a fragment of residues within amino acids 292-320 in the central region of human CHM.

Supplied as a liquid in PBS, pH 7.2. No preservative added. Labeled with MaxLight™650.

Purified by Protein A and peptide affinity chromatography.

Recognizes human CHM.