B3GAT3 Antibody

1. We identified a novel B3GAT3-related disorder with craniosynostosis and bone fragility, due to a unique homozygous mutation in B3GAT3. This syndrome should be considered in the prenatal period in light of the severe outcome and as an alternative diagnosis to Antley-Bixler or Shprintzen-Goldberg syndrome. PMID: 28771243
2. Since the phenotype of the Nias patients differs from the Larsen-like syndrome described for patients with mutation p.(Arg277Gln), we suggest mutation B3GAT3:p.(Pro140Leu) to cause a different type of GAG linkeropathy showing no involvement of the heart. PMID: 25893793
3. Reduced GlcAT-I activity impairs skeletal as well as heart development and results in variable combinations of heart malformations. PMID: 21763480
4. functional glycosyltransferase signature sequence of the human beta 1,3-glucuronosyltransferase is a XDD motif PMID: 12794088
5. we evaluated the consequences of C-4/C-6 sulfation of Galbeta1-3Gal (Gal2-Gal1) on the activity and specificity of beta1,3-glucuronosyltransferase I PMID: 15522873
6. GlcAT-I has a role in controlling and reversing articular cartilage defects PMID: 15601778
7. A comparison of substrate specificity of beta1,3-glucuronosyltransferases revealed that GlcAT-I was selective toward Galbeta1,3Gal, whereas GlcAT-P presented a broader profile. PMID: 17567734
8. 2-o-phosphorylation of xylose and 6-o-sulfation of galactose in the protein linkage region of glycosaminoglycans influence the glucuronyltransferase-I activity involved in the linkage region synthesis PMID: 18400750

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HGNC: 923

OMIM: 245600

KEGG: hsa:26229

STRING: 9606.ENSP00000265471

UniGene: Hs.502759