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Official Full Name: agrin
Also known as: CMS8; AGRIN; CMSPPD
The gene encodes one of several proteins critical in the development of the neuromuscular junction (NMJ), found in mouse knockout studies. The encoded protein contains several laminin G, Cajar-type serine protease inhibitor, and epidermal growth factor domains. Additional post-translational modifications occur by adding glycosaminoglycans and disulfide bonds. A mutation in this gene was found in a family with a congenital myasthenic syndrome affecting the limb-girdle muscles. Alternative splicing results in multiple transcript variants encoding different isoforms.