DISEASES

Disease-gene associations mined from literature

Literature associating FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I

FKRP [ENSP00000326570]

Fukutin-related protein; Catalyzes the transfer of CDP-ribitol to ribitol 5-phosphate previously attached by FKTN/fukutin of to 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:25279699, PubMed:26923585, PubMed:29477842). This constitutes the second step in the formation of the ribose 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:25279699, PubMed:26923585, PubMed:29477842).

Synonyms:  FKRP,  A0A024R0R7,  M0QX03,  M0QXT8,  M0QYR2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM