聚集蛋白抗体

聚集蛋白抗体 Background: 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. [provided by RefSeq, Aug 2011]. Also known as: AGRIN; Agrin proteoglycan; AGRN; FLJ45064; OTTHUMP00000044043; AGRIN_MOUSE.