|Other Names||Rab proteins geranylgeranyltransferase component A 1, Choroideremia protein, Rab escort protein 1, REP-1, TCD protein, CHM, REP1, TCD|
|Target/Specificity||The synthetic peptide sequence is selected from aa 307-320 of HUMAN CHM|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||Substrate-binding subunit of the Rab geranylgeranyltransferase (GGTase) complex. Binds unprenylated Rab proteins and presents the substrate peptide to the catalytic component B composed of RABGGTA and RABGGTB, and remains bound to it after the geranylgeranyl transfer reaction. The component A is thought to be regenerated by transferring its prenylated Rab back to the donor membrane. Besides, a pre-formed complex consisting of CHM and the Rab GGTase dimer (RGGT or component B) can bind to and prenylate Rab proteins; this alternative pathway is proposed to be the predominant pathway for Rab protein geranylgeranylation.|
|Cellular Location||Cytoplasm, cytosol|
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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.
Perez-Cano, H.J., et al. Am. J. Med. Genet. A 149A (10), 2134-2140 (2009) :
Renner, A.B., et al. Arch. Ophthalmol. 127(7):907-912(2009)
Sergeev, Y.V., et al. Mutat. Res. 665 (1-2), 44-50 (2009) :
MacDonald, I.M., et al. Surv Ophthalmol 54(3):401-407(2009)
Strunnikova, N.V., et al. PLoS ONE 4 (12), E8402 (2009) :
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