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

rs2710889 in AGRN gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs199476396 in AGRN gene and Myasthenic Syndromes, Congenital PMID 19631309 2009 Identification of an agrin mutation that causes congenital myasthenia and affects synapse function.

PMID 22205389 2012 LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z-) agrin.

PMID 24951643 2014 Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy.