Choroideremia protein; Rab escort protein 1; REP-1; TCD protein

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

E Coli or Yeast or Baculovirus or Mammalian Cell

Greater than 90% as determined by SDS-PAGE. (lot specific)

Liquid containing glycerol

This protein contains an N-terminal tag and may also contain a C-terminal tag. Tag types are determined by various factors including tag-protein stability, please inquire for tag information.

Sterile filter available upon request.

Low endotoxin available upon request.

Store at -20 degree C, for extended storage, conserve at -20 degree C or -80 degree C.

Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.

Small volumes of CHM recombinant protein 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.

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.

Neuroscience

(Note: Representative image, actual molecular weight may vary depending on Tag type and expression host)

77.53kD

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: cytosol; Rab-protein geranylgeranyltransferase complex

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

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

Disease: Choroideremia

"Cloning and characterization of the human choroideremia gene." van Bokhoven H., van den Hurk J.A., Bogerd L., Philippe C., Gilgenkrantz S., de Jong P., Ropers H.-H., Cremers F.P. Hum. Mol. Genet. 3:1041-1046(1994)

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