CHM Rabbit Polyclonal Antibody
Other products for "CHM"
Specifications
Product Data | |
Applications | IHC |
Recommended Dilution | IHC: 50-200 Positive control: Human colorectal cancer Predicted cell location: Cytoplasm |
Reactivities | Human |
Host | Rabbit |
Isotype | IgG |
Clonality | Polyclonal |
Immunogen | Synthetic peptide of human CHM |
Formulation | pH7.4 PBS, 0.05% NaN3, 40% Glycerol |
Concentration | lot specific |
Purification | Antigen affinity purification |
Conjugation | Unconjugated |
Storage | Store at -20°C. |
Stability | 1 year |
Gene Name | CHM, Rab escort protein 1 |
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. |
Synonyms | choroideremia; DXS540; FLJ38564; GGTA; HSD-32; MGC102710; REP-1; REP1; TCD |
Reference Data |
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