2024年12月24日 · B3GAT3 (Beta-1,3-Glucuronyltransferase 3) is a Protein Coding gene. Diseases associated with B3GAT3 include Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital …

Beta-1,3-Glucuronyltransferase 3 is an enzyme that in humans is encoded by the B3GAT3 gene. [5] [6] 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.

Gene ID: 26229, updated on 8-Feb-2025. 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.

Mutations in B3GAT3, encoding a glucuronyltransferase, were described in 25 patients from 12 families with variable phenotypes resembling Larsen, Antley-Bixler, Shprintzen-Goldberg, and Geroderma osteodysplastica syndromes.

2019年8月21日 · We review the spectrum of B3GAT3-related disorders and provide a comparison of all LK patients reported up to now, highlighting that LKs are a phenotypic continuum bridging EDS and skeletal disorders, hence offering future nosologic perspectives.

2025年1月5日 · Clinical resource with information about B3GAT3, Larsen-like syndrome, B3GAT3 type, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.

In the present study, we proved that B3GAT3 was over-expressed and unfavorable to prognosis in liver cancer. B3GAT3 was knocked down in liver cancer cell line HepG2 to investigate its specific role on tumor progression.

2023年3月17日 · Knockout of SCARB2, SLC35B2, or B3GAT3 conferred strong protection against EV71 infection, whereas reintroduction of SCARB2, SLC35B2, or B3GAT3 restored infectivity of EV71 in knockout cells. Virus binding and internalization assays showed that SLC35B2 and B3GAT3 were essential for EV71 attachment and internalization in viral entry.

B3GAT3 encodes beta-1,3-glucuronyltransferase 3. This enzyme synthesizes GalAβ1,3Galβ- by transferring glucuronic acid (GalA) with a beta 1,3 linkage toward non-reducing terminal Galβ- as an acceptor substrate.

2019年6月13日 · We report the clinical findings of two novel patients with a complex linkeropathy due to biallelic mutations in B3GAT3, the gene that encodes glucuronosyltransferase I, which catalyzes the addition of the ultimate saccharide to the linker region.