Beta-1,3-Glucuronyltransferase 3 (B3GAT3) Human Recombinant Protein

The protein encoded by this gene is a member of the glucuronyltransferase gene family, enzymes that exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product catalyzes the formation of the glycosaminoglycan-protein linkage by way of a glucuronyl transfer reaction in the final step of the biosynthesis of the linkage region of proteoglycans. A pseudogene of this gene has been identified on chromosome 3. [provided by RefSeq, Dec 2013]

B3GAT3: 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. Defects in B3GAT3 are the cause of multiple joint dislocations short stature craniofacial dysmorphism and congenital heart defects (JDSSDHD). An autosomal recessive disease characterized by dysmorphic facies, bilateral dislocations of the elbows, hips, and knees, clubfeet, and short stature, as well as cardiovascular defects. Belongs to the glycosyltransferase 43 family.

Protein type: Glycan Metabolism - heparan sulfate biosynthesis; Transferase; EC 2.4.1.135; Membrane protein, integral; Glycan Metabolism - chondroitin sulfate biosynthesis

Chromosomal Location of Human Ortholog: 11q12.3

Cellular Component: Golgi membrane; Golgi apparatus; cis-Golgi network; membrane; integral to membrane

Molecular Function: protein binding; glucuronosyltransferase activity; metal ion binding; galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity

Biological Process: chondroitin sulfate metabolic process; positive regulation of catalytic activity; glycosaminoglycan biosynthetic process; glycosaminoglycan metabolic process; heparan sulfate proteoglycan biosynthetic process; chondroitin sulfate proteoglycan biosynthetic process; carbohydrate metabolic process; protein amino acid glycosylation; pathogenesis; dermatan sulfate proteoglycan biosynthetic process

Disease: Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, And Congenital Heart Defects