DISEASES

Disease-gene associations mined from literature

Literature associating B3GAT3 and mitral valve prolapse

B3GAT3 [ENSP00000265471]

Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3; Glycosaminoglycans biosynthesis . Involved in forming the linkage tetrasaccharide present in heparan sulfate and chondroitin sulfate. Transfers a glucuronic acid moiety from the uridine diphosphate-glucuronic acid (UDP-GlcUA) to the common linkage region trisaccharide Gal-beta-1,3-Gal-beta-1,4-Xyl covalently bound to a Ser residue at the glycosaminylglycan attachment site of proteoglycans. Can also play a role in the biosynthesis of l2/HNK-1 carbohydrate epitope on glycoproteins. Shows strict specificity for Gal-beta-1,3-Gal-beta-1,4-Xyl, exhibiting negligible incorporation into other galactoside substrates including Galbeta1-3Gal beta1-O-benzyl, Galbeta1-4GlcNAc and Galbeta1-4Glc. Stimulates 2-phosphoxylose phosphatase activity of PXYLP1 in presence of uridine diphosphate- glucuronic acid (UDP-GlcUA) during completion of linkage region formation .

Synonyms:  B3GAT3,  B3GAT3p,  hB3GAT3,  E9PNA1,  E9PQ60 ...

Linkouts:  STRING  Pharos  UniProt  OMIM