DISEASES

Disease-gene associations mined from literature

Literature associating A3GALT2 and Niemann-Pick disease type C1

A3GALT2 [ENSP00000475261]

Alpha-1,3-galactosyltransferase 2; Synthesizes the galactose-alpha(1,3)-galactose group on the glycosphingolipid isoglobotrihexosylceramide or isogloboside 3 (iGb3) by catalyzing the transfer of galactose from UDP-Galactose to its acceptor molecule Gal-beta-1,4-Glc-ceramide. Can also catalyze the addition of galactose to iGb3 itself to form polygalactose structures. ; Belongs to the glycosyltransferase 6 family.

Synonyms:  A3GALT2,  A3GALT2p,  hA3GALT2,  U3KPV4,  U3KPV4p ...

Linkouts:  STRING  Pharos  UniProt