Defective B3GALTL causes PpS

Human beta-1,3-glucosyltransferase like protein (B3GALTL, HGNC Approved Gene Symbol: B3GLCT; MIM:610308; CAZy family GT31), localised on the ER membrane, glucosylates O-fucosylated proteins. The resultant glc-beta-1,3-fuc disaccharide modification on thrombospondin type 1 repeat (TSR1) domain-containing proteins is thought to assist in the secretion of many of these proteins from the ER lumen, and mediate an ER quality-control mechanism of folded TSRs (Vasudevan et al. 2015). Defects in B3GALTL can cause Peters plus syndrome (PpS; MIM:261540), an autosomal recessive disorder characterised by anterior eye chamber defects, short stature, delay in growth and mental developmental and cleft lip and/or palate (Heinonen & Maki 2009).

人类β-1,3-葡萄糖基转移酶样蛋白（B3GALTL，HGNC批准的基因符号：B3GLCT；MIM：610308；CAZy家族GT31），定位于内质网（ER）膜上，负责将O-岩藻糖基化蛋白进行葡萄糖基化。由此产生的葡萄糖-β-1,3-岩藻二糖修饰在富含血栓生成素1型重复序列（TSR1）域蛋白上，被认为有助于这些蛋白从ER腔分泌，并介导折叠的TSRs在ER中的质量控制机制（Vasudevan等人，2015年）。B3GALTL基因的缺陷可导致皮特斯加综合征（PpS；MIM：261540），这是一种常染色体隐性遗传疾病，其特征为眼前房缺陷、身材矮小、生长和智力发育迟缓以及唇裂和/或腭裂（Heinonen和Maki，2009年）。