catalog number :
MBS2603021
products type :
ELISA Kit
products full name :
Human Rab proteins geranylgeranyltransferase component A 1, CHM ELISA Kit
products short name :
choroideremia (Rab escort protein 1)
other names :
rab proteins geranylgeranyltransferase component A 1 isoform a; Rab proteins geranylgeranyltransferase component A 1; rab proteins geranylgeranyltransferase component A 1; choroideremia (Rab escort protein 1); Choroideremia protein; Rab escort protein 1; REP-1; TCD protein
other gene names :
CHM; CHM; TCD; GGTA; REP-1; DXS540; HSD-32; REP1; TCD; REP-1
uniprot entry name :
RAE1_HUMAN
storage stability :
Store all reagents at 2-8 degree C.
ncbi acc num :
NP_000381.1
ncbi gb acc num :
NM_000390.2
ncbi mol weight :
73,476 Da
ncbi summary :
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]
uniprot summary :
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.2 PublicationsManual assertion based on experiment in:Ref.8