DISEASES

Disease-gene associations mined from literature

Literature associating B3GALTL and Axenfeld-Rieger syndrome type 1

B3GALTL [ENSP00000343002]

Beta 1,3-galactosyltransferase-like; O-glucosyltransferase that transfers glucose toward fucose with a beta-1,3 linkage. Specifically glucosylates O-linked fucosylglycan on TSP type-1 domains of proteins, thereby contributing to elongation of O-fucosylglycan.

Synonyms:  B3GALTL,  B3GALTLp,  hB3GALTL,  B3GLCT,  Q6Y288 ...

Linkouts:  STRING  Pharos  UniProt  OMIM