DISEASES

Disease-gene associations mined from literature

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

FKRP [ENSP00000326570]

Fukutin related protein; Transferase 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.

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

Linkouts:  STRING  Pharos  UniProt  OMIM