FKTN Polyclonal Antibody

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.

CMD1X; FCMD; FCMD gene; FKTN; FKTN; Fukutin; Fukuyama type congenital muscular dystrophy protein; Fukuyama-type congenital muscular dystrophy protein; LGMD2M; MDDGA4; MDDGB4; MDDGC4; MGC126857; MGC134944; MGC134945; MGC138243; OTTHUMP00000021841; patient fukutin