Fukutin (FKTN)

Fukutin is a protein associated with Fukuyama congenital muscular dystrophy.It has also been associated with dilated cardiomyopathy.The protein 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.Widely expressed with highest expression in brain, heart, pancreas and skeletal muscle.