DISEASES

Disease-gene associations mined from literature

Literature associating B4GALT5 and kidney leiomyosarcoma

B4GALT5 [ENSP00000360776]

Beta-1,4-galactosyltransferase 5; Catalyzes the synthesis of lactosylceramide (LacCer) via the transfer of galactose from UDP-galactose to glucosylceramide (GlcCer) . LacCer is the starting point in the biosynthesis of all gangliosides (membrane-bound glycosphingolipids) which play pivotal roles in the CNS including neuronal maturation and axonal and myelin formation (By similarity). Plays a role in the glycosylation of BMPR1A and regulation of its protein stability (By similarity). Essential for extraembryonic development during early embryogenesis (By similarity). ; Belongs to the glycosyltransferase 7 family.

Synonyms:  B4GALT5,  B4GALT5p,  hB4GALT5,  O43286,  O43286p ...

Linkouts:  STRING  Pharos  UniProt  OMIM