{"symbol":"AGRN","synonyms":["CMS8","CMSPPD","AGRIN"],"name":"agrin","description":"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]","ncbiEntrezGeneId":375790,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/375790","proteins":[{"symbol":"AGRIN_HUMAN","href":"/api/1.0/protein/AGRIN_HUMAN"}],"hgncRootFamilies":[{"name":"Proteoglycans","href":"/api/1.0/gene_family/Proteoglycans"}]}