Gene: B3GAT3

Alternate names for this Gene: GLCATI|JDSCD|glcUAT-I

Gene Summary: 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.

Gene is located in Chromosome: 11

Location in Chromosome : 11q12.3

Description of this Gene: beta-1,3-glucuronyltransferase 3

Type of Gene: protein-coding

rs12794886 in B3GAT3 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs372487178 in B3GAT3 gene and MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS PMID 24668659 2014 Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5-year-old boy-report of the second family with B3GAT3 mutation and expansion of the phenotype.

PMID 26086840 2015 A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes.

PMID 21763480 2011 Faulty initiation of proteoglycan synthesis causes cardiac and joint defects.

PMID 25893793 2015 Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3.