Literature associating B3GAT1 and diffuse infiltrative lymphocytosis syndrome
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 ...