AGRN, Official Symbol AGRNprovided by HGNC Official Full Name agrinprovided by HGNC Primary source HGNC:HGNC:329 See related Ensembl:ENSG00000188157 MIM:103320; AllianceGenome:HGNC:329 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CMS8; AGRIN; CMSPPD 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] Expression Broad expression in kidney (RPKM 31.2), lung (RPKM 13.9) and 21 other tissues See more Orthologs mouse all