DISEASES

Disease-gene associations mined from literature

Literature associating GALNT5 and atrial heart septal defect 5

GALNT5 [ENSP00000259056]

UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 5; 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 activity toward EA2 peptide substrate, but has a weak activity toward Muc2 or Muc1b substrates (By similarity); Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily.

Synonyms:  GALNT5,  GALNT5p,  hGALNT5,  Q68VJ5,  Q7Z7M9 ...

Linkouts:  STRING  Pharos  UniProt  OMIM