ALG14缺陷导致ALG14-CMS
中文名称
通路描述
UDP-N-乙酰葡糖胺转移酶亚基ALG14同源物（ALG14）与ALG13蛋白形成复合物，并参与将第二个N-乙酰葡糖胺（GlcNAc）添加到脂质连接寡糖（LLO）中间体（GlcNAcDOLDP）（Gao et al. 2005）。ALG14缺陷可导致先天性肌无力综合征（ALG14-CMS），这是由于神经肌肉信号传递缺陷所致（Cossins et al. 2013）。受影响的肌肉中最常见的是近端肢体肌肉。导致ALG14-CMS的突变包括p.P65L和p.R104*（Cossins et al. 2013）。
英文描述
Defective ALG14 causes ALG14-CMS UDP-N-acetylglucosamine transferase subunit ALG14 homolog (ALG14) forms a complex with ALG13 protein and is required for the addition of the second N-acetylglucosamine (GlcNAc) to the lipid linked oligosaccharide (LLO) intermediate (GlcNAcDOLDP) (Gao et al. 2005). Defects in ALG14 can cause congenital myasthenic syndrome (ALG14-CMS), which is due to a defect in neuromuscular signal transmission (Cossins et al. 2013). The most commonly affected muscles include proximal limb muscles. Mutations causing ALG14-CMS include p.P65L and p.R104* (Cossins et al. 2013).
所含基因
1 个基因