Technical Data

033849
Clone Type
Polyclonal
Host
Rabbit
Source
Human
Isotype
IgG
Grade
Affinity Purified
Applications
E WB
Crossreactivity
Hu
Accession #
NP_000381.1
Gene ID
1121
Gene #
CHM
Shipping Temp
Blue Ice
Storage Temp
-20°C
Rabbit Anti-CHM, ID (CHM, REP1, TCD, Rab proteins geranylgeranyltransferase component A 1, Choroideraemia protein, Rab escort protein 1, TCD protein)
CHM, REP1, TCD, Rab proteins geranylgeranyltransferase component A 1, Choroideraemia protein, Rab escort protein 1, TCD protein

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: 1:1000 Optimal 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.
Immunogen
KLH-conjugated synthetic peptide mapping to a fragment of residues within amino acids 292-320 in the central region of human CHM.
Form
Supplied as a liquid in PBS, pH 7.2, 0.09% sodium azide.
Purity
Purified by Protein A and peptide affinity chromatography.
Specificity
Recognizes human CHM.

Intended for research use only. Not for use in human, therapeutic, or diagnostic applications.

References
1. Perez-Cano, H.J., et al. Am. J. Med. Genet. A 149A (10), 2134-2140 (2009) 2. Renner, A.B., et al. Arch. Ophthalmol. 127(7):907-912(2009) 3. Sergeev, Y.V., et al. Mutat. Res. 665 (1-2), 44-50 (2009) 4. MacDonald, I.M., et al. Surv Ophthalmol 54(3):401-407(2009) 5. Strunnikova, N.V., et al. PLoS ONE 4 (12), E8402 (2009)
USBio References
No references available
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