Gene: AGRN
Alternate names for this Gene: AGRIN|CMS8|CMSPPD
Gene 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.
Gene is located in Chromosome: 1
Location in Chromosome : 1p36.33
Description of this Gene: agrin
Type of Gene: protein-coding