DISEASES

Disease-gene associations mined from literature

Literature associating B4GALNT2 and congenital disorder of glycosylation type IId

B4GALNT2 [ENSP00000300404]

UDP-GalNAc:Neu5Aca2-3Galb-R b1,4-N-acetylgalactosaminyltransferase; Involved in the synthesis of the Sd(a) antigen (Sia- alpha2,3-[GalNAc-beta1,4]Gal-beta1,4-GlcNAc), a carbohydrate determinant expressed on erythrocytes, the colonic mucosa and other tissues. Transfers a beta-1,4-linked GalNAc to the galactose residue of an alpha-2,3-sialylated chain.

Synonyms:  B4GALNT2,  Q8IVI2,  Q8NHY0,  GALGT2,  Q8IVI2p ...

Linkouts:  STRING  Pharos  UniProt  OMIM