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This gene encodes one of several proteins that are critical in the development of the neuromuscular junction (NMJ), as identified in mouse knock-out studies. The encoded protein contains several laminin G, Kazal type serine protease inhibitor, and epidermal growth factor domains. Additional post-translational modifications occur to add glycosaminoglycans and disulfide bonds. In one family with congenital myasthenic syndrome affecting limb-girdle muscles, a mutation in this gene was found. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]
[中文简述(自动翻译):]  该基因编码几种蛋白质在神经肌肉接头(NMJ)的发展的关键之一,在小鼠基因敲除研究确定。所编码的蛋白质包含几个层粘连蛋白G,Kazal型丝氨酸蛋白酶抑制剂和表皮生长因子结构域。额外的翻译后修饰发生添加糖胺聚糖和二硫键。在一个家庭患有先天性肌无力综合征影响肢带肌,在这个基因的突变被发现。在多个转录剪接变异体导致编码不同亚型。 [由RefSeq的,2015年3月提供]
AGRN基因(以及对应的蛋白质)的细胞分布位置:
AGRN基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
MYASTHENIC SYNDROME, CONGENITAL, WITH PRE- AND POSTSYNAPTIC DEFECTS | 0.32 | 3 | 3 | CLINVAR_MGD_UNIPROT |
Leukemia, Myelocytic, Acute | 0.12 | 1 | 0 | CTD_human |
Congenital myasthenic syndrome ib | 0.12 | 0 | 0 | CTD_human |
Alzheimer's Disease | 0.0054487 | 2 | 0 | LHGDN |
Autistic Disorder | 0.002367032 | 1 | 0 | GAD |
Myasthenic Syndromes, Congenital | 0.000814326 | 3 | 0 | BeFree |
Myasthenias | 0.000271442 | 1 | 0 | BeFree |
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