Disease-gene associations mined from literature

Literature associating C1GALT1 and Lutembacher's syndrome

C1GALT1 [ENSP00000389176]

Core 1 UDP-galactose:N-acetylgalactosamine-alpha-R beta 1,3-galactosyltransferase 1; Glycosyltransferase that generates the core 1 O-glycan Gal-beta1-3GalNAc-alpha1-Ser/Thr (T antigen), which is a precursor for many extended O-glycans in glycoproteins. Plays a central role in many processes, such as angiogenesis, thrombopoiesis and kidney homeostasis development; Belongs to the glycosyltransferase 31 family. Beta3- Gal-T subfamily.

Synonyms:  C1GALT1,  C1GALT1p,  hC1GALT1,  A0A024RA32,  C1GALT1-001 ...

Linkouts:  STRING  Pharos  UniProt