AffiAB® Anti-Fukutin Antibody [JE58-81]

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.