Rab proteins geranylgeranyltransferase component A 1; Choroideremia protein; Rab escort protein 1; REP-1; TCD protein; CHM; REP1; TCD

For Research Use Only. Not for use in diagnostic procedures.

Polyclonal

Rabbit Ig

Rabbit

This CHM antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 292-320 amino acids from the Central region of human CHM.

Peptide Affinity Purified Rabbit Polyclonal Antibody (Pab)

Purified polyclonal antibody supplied in PBS with 0.09% (W/V) sodium azide. This antibody is purified through a protein A column, followed by peptide affinity purification.

Vial Concentration: 0.27 (lot specific)

Maintain refrigerated at 2-8 degree C for up to 6 months. For long term storage store at -20 degree C in small aliquots to prevent freeze-thaw cycles.

Small volumes of anti-CHM antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

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.

Neuroscience; Signal Transduction

Western Blot (WB), ELISA (EIA)

WB~~1:1000

CHM Antibody (Center) western blot analysis in 293 cell line lysates (35ug/lane).This demonstrates the CHM antibody detected the CHM protein (arrow).

73476

choroideremia (Rab escort protein 1)

rab proteins geranylgeranyltransferase component A 1

Rab proteins geranylgeranyltransferase component A 1

REP1; TCD; REP-1??[Similar Products]

RAE1_HUMAN

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.[provided by RefSeq, Feb 2009]

CHM: Binds unprenylated Rab proteins, presents it to the catalytic Rab GGTase dimer, 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. Also 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. Defects in CHM are the cause of choroideremia (CHM). An X-linked recessive disease characterized by a slowly progressive degeneration of the choroid, photoreceptors, and retinal pigment epithelium. Affected males develop night blindness in their teenage years followed by loss of peripheral vision and complete blindness at middle age. Carrier females are generally asymptomatic but funduscopic examination often shows patchy areas of chorioretinal atrophy. Belongs to the Rab GDI family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Transferase

Chromosomal Location of Human Ortholog: Xq21.2

Cellular Component: Rab-protein geranylgeranyltransferase complex; cytosol

Molecular Function: GTPase activator activity; Rab GTPase binding; Rab-protein geranylgeranyltransferase activity

Biological Process: protein geranylgeranylation; blood vessel development; visual perception; response to stimulus; protein targeting to membrane; positive regulation of GTPase activity

Disease: Choroideremia

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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