DISEASES

Disease-gene associations mined from literature

Literature associating B3GAT1 and diffuse infiltrative lymphocytosis syndrome

B3GAT1 [ENSP00000433847]

Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1; Involved in the biosynthesis of L2/HNK-1 carbohydrate epitope on glycoproteins. Can also play a role in glycosaminoglycan biosynthesis. Substrates include asialo- orosomucoid (ASOR), asialo-fetuin, and asialo-neural cell adhesion molecule. Requires sphingomyelin for activity: stearoyl- sphingomyelin was the most effective, followed by palmitoyl- sphingomyelin and lignoceroyl-sphingomyelin. Activity was demonstrated only for sphingomyelin with a saturated fatty acid and not for that with an unsaturated fatty acid, regardless of the length of the acyl group; Beta-1,3-glucuronyltransferases

Synonyms:  B3GAT1,  B3GAT1p,  hB3GAT1,  DKFZP547E046,  DKFZP547E046-001 ...

Linkouts:  STRING  Pharos  UniProt