| muscle, skeletal, receptor tyrosine kinase | OKDB#: 4315 |
| Symbols: | MUSK | Species: | human | ||
| Synonyms: | MGC126323, MGC126324, | Locus: | 9q31.3-q32 in Homo sapiens | HPMR |
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| General Comment | NCBI Summary: 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. | ||||
| General function | Receptor | ||||
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| Cellular localization | Plasma membrane | ||||
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| Ovarian localization | Oocyte | ||||
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| Mutations | 0 mutations | ||||
| Genomic Region | show genomic region | ||||
| Phenotypes and GWAS | show phenotypes and GWAS | ||||
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| created: | June 2, 2010, 2:55 p.m. | by: |
hsueh email:
home page: |
| last update: | June 2, 2010, 2:56 p.m. | by: | hsueh email: |
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