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ALG3

Gene name:ALG3 alpha-1,3- mannosyltransferase

...ALG3的突变会导致先天性糖基化障碍(CDG),特别是CDG-Id型,患者表现为严重的神经系统异常、发育迟缓、癫痫、肌张力低下和免疫缺陷等症状,突变的ALG3基因会导致酶活性丧失或降低,从而影响N-糖基化过程,导致糖蛋白功能异常。ALG3过...

ALG3P1

Gene name:ALG3 pseudogene 1

ALG3P1是一个假基因,属于ALG3基因家族。假基因是基因组中与功能基因序列相似但通常由于突变而失去功能的DNA片段。ALG3基因家族主要参与糖基化过程,特别是N-连接糖基化的早期步骤,这对蛋白质的正确折叠和功能至关重要。ALG3P1作为...

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