Disease-gene associations mined from literature

Literature associating B4GALT1 and congenital disorder of glycosylation type IIe

B4GALT1 [ENSP00000369055]

Processed beta-1,4-galactosyltransferase 1; The Golgi complex form catalyzes the production of lactose in the lactating mammary gland and could also be responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as the carbohydrate moieties of glycolipids.

Synonyms:  B4GALT1,  B4GALT1p,  hB4GALT1,  P15291,  Q86XA6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM