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.

由该基因编码的蛋白质是葡萄糖醛酸转移酶基因家族的成员，该酶具有严格的受体特异性，可识别非还原性末端糖及其异头连接。 该基因产物通过在蛋白聚糖连接区域生物合成的最后一步中的葡糖醛酸转移反应催化糖胺聚糖-蛋白质连接的形成。 已在 3 号染色体上鉴定出该基因的假基因。 [RefSeq 提供，2013 年 12 月]

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.

2023年11月23日 · B3GAT3（Beta-1,3-glucuronyltransferase 3）重组蛋白是一种关键的糖基化酶，其在细胞外基质构建和生物过程中发挥着不可或缺的作用。 本文将深入介绍B3GAT3的结构特征、功能以及其在细胞生物学中的关键调控作用。

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.

2021年12月1日 · The enzyme β-1,3-glucuronyltransferase 3, encoded by B3GAT3, is involved in the linkage process to form functional PGs. Biallelic pathogenic variants in B3GAT3 hence lead to Linkeropathy due to loss of function or decreased activity of this enzyme.

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.

这个基因产物通过葡萄糖醛酸转移反应催化糖胺糖-蛋白质连接的形成，这是蛋白聚糖连接区的最后一步生物合成。 在这个基因的一个假基因已经在染色体3上被鉴定。 [由RefSeq提供，2013年12月] 该基因暂未发现相关的转录本和蛋白质序列信息。 Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair. Structural basis of the Norrin-Frizzled 4 interaction.

这个基因的人类同源物与Larsen样综合征B3GAT3型有关。 与人类B3GAT3（β-1,3-葡萄糖醛酸转移酶3）正交。 [由基因组资源联盟，2022年4月提供] 该基因暂未发现相关的转录本和蛋白质序列信息。 Glycine N-methyltransferase is a folate binding protein of rat liver cytosol.