Disease-gene associations mined from literature

Literature associating GALNT2 and methylmalonic acidemia cblB type

GALNT2 [ENSP00000355632]

UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 2; Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D- galactosamine residue to a serine or threonine residue on the protein receptor. Has a broad spectrum of substrates for peptides such as EA2, Muc5AC, Muc1a, Muc1b. Probably involved in O-linked glycosylation of the immunoglobulin A1 (IgA1) hinge region; Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily.

Synonyms:  GALNT2,  GALNT2p,  hGALNT2,  Q10471,  Q10471p ...

Linkouts:  STRING  Pharos  UniProt  OMIM