CHM Rabbit Polyclonal Antibody
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Specifications
Product Data | |
Applications | WB |
Recommended Dilution | WB,1:500 - 1:2000 |
Reactivities | Human |
Modifications | Unmodified |
Host | Rabbit |
Isotype | IgG |
Clonality | Polyclonal |
Immunogen | Recombinant fusion protein containing a sequence corresponding to amino acids 120-210 of human CHM (NP_000381.1). |
Formulation | Buffer: PBS with 0.02% sodium azide,50% glycerol,pH7.3. |
Concentration | lot specific |
Purification | Affinity purification |
Conjugation | Unconjugated |
Stability | Shelf life: one year from despatch. |
Predicted Protein Size | 12kDa/73kDa |
Gene Name | CHM Rab escort protein |
Database Link | |
Background | 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. Alternatively spliced transcript variants have been found for this gene. |
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