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.
Applications:Suitable for use in Western Blot and ELISA.
Other applications not tested.
Recommended Dilutions:Western Blot: 1:1000Optimal dilutions to be determined by the researcher.
Storage and Stability:May be stored at 4°C for short-term only.
Aliquot to avoid repeated freezing and thawing.
Store at -20°C.
Aliquots are stable for 12 months after receipt.
For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.
仕様
Size：200ul
Host：rabbit
Source Antibody：human
Grade：Affinity Purified
Purity：Purified by Protein A and peptide affinity chromatography.
Form：Supplied as a liquid in PBS, pH 7.2, 0.09% sodium azide.
Specificity：Recognizes human CHM.
Isotype：IgG
Calc Applications Abbrev：E WB
Calc Crossreactivity：Hu
Immunogen：KLH-conjugated synthetic peptide mapping to a fragment of residues within amino acids 292-320 in the central region of human CHM.
