Literature associating FKTN and Dubowitz syndrome
Fukuyama-type congenital muscular dystrophy protein; Glycosyltransferase involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine- beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity. May interact with and reinforce a large complex encompassing the outside and inside of muscle membranes. Could be involved in brain development.
Synonyms: FKTN, FKTN-001, FKTN-002, FKTN-003, FKTN-004 ...