| Gene Symbol |
AGRN
|
| Gene Synonyms |
AGR AGRIN CMS8 CMSPPD nmf380 |
| Gene Full Name |
agrin |
| 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. [provided by RefSeq, Mar 2015] |
| Alternative Names |
agrin proteoglycan extracellular matrix proteoglycan laminin-binding domain RP23-139J18.2 synaptic basal lamina component |
| Molecular Weight(MW) |
217kDa |
| Cellular Localization |
Secreted, extracellular space, extracellular matrix;Cell membrane |