Disease-gene associations mined from literature

Literature associating FKTN and congenital muscular dystrophy-dystroglycanopathy type A

FKTN [ENSP00000223528]

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 ...

Linkouts:  STRING  Pharos  UniProt  OMIM