Gene Symbol | AGRN |
Entrez Gene ID | 375790 |
Full Name | agrin |
Synonyms | AGRIN,CMS8,CMSPPD |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 (3) |