DISEASES

Disease-gene associations mined from literature

Literature associating FKTN and Fukuyama congenital muscular dystrophy

FKTN [ENSP00000223528]

Fukutin; Catalyzes the transfer of CDP-ribitol to the distal N- acetylgalactosamine 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) (PubMed:17034757, PubMed:25279699, PubMed:26923585, PubMed:29477842). This constitutes the first step in the formation of the ribitol 5-phosphate tandem repeat which links the phosphorylated O- mannosyl trisaccharide to the ligand binding moiety composed of repeats of 3-xylosyl-alpha-1,3-glucuronic acid-beta-1 (PubMed:17034757, PubMed:25279699, PubMed:26923585, PubMed:29477842). Required for normal location of POMGNT1 in Golgi membranes, and for normal POMGNT1 activity . May interact with and reinforce a large complex encompassing the outside and inside of muscle membranes . Could be involved in brain development (Probable). ECO:0000269|PubMed:26923585, ECO:0000269|PubMed:29477842,; Belongs to the LicD transferase family.

Synonyms:  FKTN,  A0A2R8Y4L5,  A0A2R8Y6X6,  A0A2R8Y768,  A0A2R8Y7E3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM