缺陷的B3GALTL导致PpS
中文名称
通路描述
缺陷的B3GALTL导致PpS。人类β-1,3-葡萄糖基转移酶样蛋白（B3GALTL，HGNC批准基因符号：B3GLCT；MIM:610308；CAZy家族GT31），定位于内质网膜，对O-去甲基化蛋白进行糖基化。这种在血栓蛋白1重复（TSR1）结构域上的glc-β-1,3-双糖修饰被认为有助于许多蛋白从内质网腔中分泌，并介导内质网折叠TSR的质量控制机制（Vasudevan等人，2015）。B3GALTL缺陷可导致Peters plus综合征（PpS；MIM:261540），这是一种常染色体隐性疾病，特征为前房室缺陷、身材矮小、生长延迟、精神发育迟缓以及裂唇和/或裂腭（Heinonen & Maki，2009）。
英文描述
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).
所含基因
4 个基因