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General description
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.
Immunogen
A synthetic peptide corresponding to a sequence within amino acids 1-100 of human CHM (P24386).
PBS with 0.02% sodium azide,0.05% BSA,50% glycerol,pH7.3.
Application
WB
| biological source | rabbit |
| Quality Level | 100 |
| conjugate | unconjugated |
| material | colorless |
| clone | 2F7W2, monoclonal |
| form | liquid |
| mol wt | 101 kDa |
| species reactivity | human |
| concentration | 0.40 mg/mL |
| technique(s) | western blot: 1:500 - 1:2000 |
| color | colorless |
| isotype | IgG |
| immunogen sequence | MADTLPSEFDVIVIGTGLPESIIAAACSRSGRRVLHVDSRSYYGGNWASFSFSGLLSWLKEYQENSDIVSDSPVWQDQILENEEAIALSRKDKTIQHVEV |
| UniProt accession no. | P24386 |
| shipped in | wet ice |
| storage temp. | −20°C |
| target post-translational modification | unmodified |
| Gene Information | human ... CHM(1121) |
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¥ 1082.93
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¥ 459.57
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¥ 1665.68
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¥ 1125.70
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¥ 827.30
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¥ 1669.50
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¥ 619.92
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¥ 3254.85
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¥ 962.68
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