Disease-gene associations mined from literature

Literature associating B4GALT1 and congenital disorder of glycosylation type IIe

B4GALT1 [ENSP00000369055]

UDP-galactose:beta-N-acetylglucosamine 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; Beta 4-glycosyltransferases

Synonyms:  B4GALT1,  B4GALT1p,  hB4GALT1,  B4DMM8,  B4GALT1-001 ...

Linkouts:  STRING  Pharos  UniProt  OMIM