BackgroundThis 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.
DescriptionCHM Polyclonal Antibody. Unconjugated. Raised in: Rabbit.
FormulationBuffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
SpecificityHuman
IsotypeIgG
Uniprot IDP24386
PurificationAffinity Purification
ImmunogenRecombinant fusion protein containing a sequence corresponding to amino acids 120-210 of human CHM (NP_000381.1).
StorageShipped at 4°C. Upon receipt, store at -20°C. Avoid freeze / thaw cycles
Alternative NamesCHM; DXS540; GGTA; HSD-32; REP-1; TCD; CHM, Rab escort protein 1
ApplicationWB; Recommended dilution: WB 1:500 - 1:2000