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.
| Target |
CHM |
| Reactivity |
Human |
| Host |
Rabbit |
| Clonality |
Polyclonal |
| Tested Applications |
WB |
| Recommended dilutions |
Optimal dilutions/concentrations should be determined by the end user. |
| Immunogen |
KLH-conjugated synthetic peptide between 292-320 amino acids from the Central region of human CHM. |
| Purification |
Purified through a protein A column, followed by peptide affinity purification. |
| Isotype |
IgG |
| Conjugation |
Unconjugated |
| Storage |
Aliquot and store at -20 °C. Avoid repeated freeze/thaw cycles. |
| Swiss Prot |
P24386
|
| Gene Symbol |
CHM |
| Buffer |
PBS containing 0.09% sodium azide. |
| UNSPSC Code |
12352203 |
| Availability |
Shipped within 5-10 working days. |
| Note |
This product is for research use only. |