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This gene encodes a muscle-specific tyrosine kinase receptor. The encoded protein may play a role in clustering of the acetylcholine receptor in the postsynaptic neuromuscular junction. Mutations in this gene have been associated with congenital myasthenic syndrome. Alternatively spliced transcript variants have been described.[provided by RefSeq, Oct 2009]
[中文简述(自动翻译):]  该基因编码一个肌肉特异性酪氨酸激酶受体。所编码的蛋白质可在突触后神经肌肉接头的乙酰胆碱受体的聚类发挥作用。在这种基因突变与先天性肌无力综合征相关联。可变剪接转录物变体已有描述。[通过的RefSeq,2009年10月提供]
MUSK基因(以及对应的蛋白质)的细胞分布位置:
MUSK基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Pena-Shokeir syndrome type I | 0.24 | 1 | 0 | CLINVAR_UNIPROT |
| MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY | 0.24 | 0 | 2 | CLINVAR_CTD_human |
| Myasthenia Gravis | 0.130897401 | 5 | 0 | CTD_human_LHGDN |
| Myasthenia Gravis, Autoimmune, Experimental | 0.08 | 1 | 0 | RGD |
| Epilepsy | 0.00272435 | 1 | 0 | LHGDN |
| Muscular Atrophy | 0.00272435 | 1 | 0 | LHGDN |
| Myasthenic Syndromes, Congenital | 0.001085767 | 4 | 1 | BeFree |
| Myasthenia Gravis, Generalized | 0.000271442 | 1 | 0 | BeFree |
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