Protein Name agrin
Organism Homo sapiens
Gene ID 375790
Gene Symbol

AGRN

UniProt O00468 (AGRIN_HUMAN)
Relationships Total Number of functionally related compound(s) : 88
Total Number of Articles : 124
Description

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]

synonyms
  • agrin
  • agrin proteoglycan
  • AGRIN
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Properties