Rabbit Polyclonal antibody to ChoroideremiaThis 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]
Immunogen
A synthetic peptide corresponding to a N-terminal region of Human Choroideremia
Key Feature
Clonality
Polyclonal
Isotype
IgG
Host Species
Rabbit
Tested Applications
WB
*Optimal dilutions/concentrations should be determined by the researcher.
Species Reactivity
Human
Predicted Reactivity
Horse: 80%; Human: 100%
Concentration
1mg/ml
Purification
Affinity purified
Target Information
Gene Synonyms
REP1 , DXS540 , HSD32 , CHM , GGTA , TCD
Target
Choroideremia
Molecular Weight(MW)
73 KDa (note)
Application
Application
WB analysis of human thymus tissue using Choroideremia antibody at 0.2-1μg/ml.
Positive Control
human thymus
Application Notes
*Optimal dilutions/concentrations should be determined by the researcher.
Additional Information
Form
Liquid
Storage Instructions
Keep as concentrated solution. For short-term storage, store at 4ºC. For long-term storage, aliquot and store at -20ºC or below. Avoid multiple freeze-thaw cycles.
Storage Buffer
1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose.