DISEASES

Disease-gene associations mined from literature

Literature associating POMK and congenital muscular dystrophy-dystroglycanopathy type A12

POMK [ENSP00000331258]

Protein kinase-like protein SgK196; Protein O-mannose kinase that specifically mediates phosphorylation at the 6-position of an O-mannose of the trisaccharide (N-acetylgalactosamine (GalNAc)-beta-1,3-N- acetylglucosamine (GlcNAc)-beta-1,4-mannose) to generate phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine- beta-1,3-N-acetylglucosamine-beta-1,4-(phosphate-6-)mannose). Phosphorylated O-mannosyl trisaccharide is a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity. Only shows kinase activity when the GalNAc-beta-3-GlcNAc-beta-terminus is linked to the 4-position of O-mannose, suggesting that this disaccharide serves as the substrate recognition motif.

Synonyms:  POMK,  E5RJD5,  Q9H5K3,  E5RJD5p,  hE5RJD5 ...

Linkouts:  STRING  Pharos  UniProt