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General description
The protein encoded by this gene is a putative transmembrane protein that is localized to the cis-Golgi compartment, where it may be involved in the glycosylation of alpha-dystroglycan in skeletal muscle. The encoded protein is thought to be a glycosyltransferase and could play a role in brain development. Defects in this gene are a cause of Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated cardiomyopathy type 1X (CMD1X). Alternatively spliced transcript variants have been found for this gene.
Immunogen
A synthetic peptide corresponding to a sequence within amino acids 362-461 of human Fukutin (O75072).
PBS with 0.02% sodium azide,0.05% BSA,50% glycerol,pH7.3.
Application
WB, IHC
| biological source | rabbit |
| Quality Level | 100 |
| conjugate | unconjugated |
| material | colorless |
| clone | 7J5N6, monoclonal |
| form | liquid |
| mol wt | 54 kDa |
| species reactivity | human, rat |
| concentration | 3.00 mg/mL |
| technique(s) | immunohistochemistry: 1:50 - 1:200,western blot: 1:500 - 1:2000 |
| color | colorless |
| isotype | IgG |
| immunogen sequence | DVKLDVFFFYEETDHMWNGGTQAKTGKKFKYLFPKFTLCWTEFVDMKVHVPCETLEYIEANYGKTWKIPVKTWDWKRSPPNVQPNGIWPISEWDEVIQLY |
| UniProt accession no. | O75072 |
| shipped in | wet ice |
| storage temp. | −20°C |
| target post-translational modification | unmodified |
| Gene Information | human ... Fukutin(2218) |
| 长度(mm) | |
| 宽度(mm) | |
| 高度(mm) | |
| 重量(kg) |




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