DISEASES

Disease-gene associations mined from literature

Literature associating A4GALT and dilated cardiomyopathy 1O

A4GALT [ENSP00000384794]

Lactosylceramide 4-alpha-galactosyltransferase; Catalyzes the transfer of galactose from UDP-alpha-D- galactose to lactosylceramide/beta-D-galactosyl-(1->4)-beta-D-glucosyl- (1<->1)-ceramide(d18:1(4E)) to produce globotriaosylceramide/globoside Gb3Cer (d18:1(4E)) . Also able to transfer galactose to galactosylceramide/beta-D-Gal-(1<->1')-Cer . Globoside Gb3Cer is a glycosphingolipid of the globo serie, one of the major types of neutral root structures of glycosphingolipids, that constitute a significant portion of mammalian cell membranes (Probable). Globotriaosylceramide/globoside Gb3Cer in blood and tissue cell membranes is the antigen Pk of blood histogroup P ; Belongs to the glycosyltransferase 32 family.

Synonyms:  A4GALT,  A4GALTp,  hA4GALT,  A0A0S2Z5J1,  Q9NPC4 ...

Linkouts:  STRING  Pharos  UniProt