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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). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq
Specifications
Specifications
| Antigen | fukutin |
| Applications | ELISA, Western Blot |
| Classification | Polyclonal |
| Conjugate | Unconjugated |
| Description | Mouse polyclonal antibody raised against a partial recombinant FCMD. |
| Formulation | 50% glycerol |
| Gene | FKTN |
| Gene Accession No. | NM_006731 |
| Gene Alias | CMD1X/FCMD/LGMD2M/MGC126857/MGC134944/MGC134945/MGC138243 |
| Gene Symbols | FKTN |
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