DISEASES

Disease-gene associations mined from literature

Literature on GALNT12

GALNT12 [ENSP00000364150]

Polypeptide N-acetylgalactosaminyltransferase 12; 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 non-glycosylated peptides such as Muc5AC, Muc1a and EA2, and no detectable activity with Muc2 and Muc7. Displays enzymatic activity toward the Gal-NAc-Muc5AC glycopeptide, but no detectable activity to mono-GalNAc-glycosylated Muc1a, Muc2, Muc7 and EA2. May play an important role in the initial step of mucin-type oligosaccharide biosynthesis in digestive organs.

Synonyms:  GALNT12,  GALNT12p,  hGALNT12,  A0A087WT76,  Q8IXK2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM