Fukutin

Fukutin is a eukaryotic protein necessary for the maintenance of is_associated_with::muscle integrity, cortical is_associated_with::histogenesis, and normal ocular development. Mutations in the fukutin gene have been shown to result in is_associated_with::Fukuyama congenital muscular dystrophy characterised by brain malformation - one of the most common autosomal-recessive disorders in Japan. In humans this protein is encoded by the FCMD is_associated_with::gene (also named FKTN), located on is_associated_with::chromosome 9q31. Human fukutin exhibits a length of 461 amino acids and a predicted molecular mass of 53.7 kDa.

Function
Although its function is mostly unknown, fukutin is a putative transmembrane protein that is ubiquitously expressed, although at higher levels in skeletal muscle, heart and brain. It is localized to the cis-Golgi compartment, where it may be involved in the is_associated_with::glycosylation of α-is_associated_with::dystroglycan in skeletal muscle. The encoded protein is thought to be a is_associated_with::glycosyltransferase and could play a role in brain development.

Clinical significance
Defects in this gene are a cause of is_associated_with::Fukuyama congenital muscular dystrophy (FCMD), is_associated_with::Walker-Warburg syndrome (WWS), is_associated_with::limb-girdle muscular dystrophy type 2M (LGMD2M), and is_associated_with::dilated cardiomyopathy type 1X (CMD1X).