Agrin

Alternative Names

  • AGRN
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OMIM Number

103320

NCBI Gene ID

375790

Uniprot ID

O00468

Length

35,997 bases

No. of Exons

42

No. of isoforms

7

Protein Name

Agrin

Molecular Mass

217320 Da

Amino Acid Count

2068

Genomic Location

chr1:1,020,120-1,056,116

Gene Map Locus
1p36.33

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_198576.4:c.4178C>TSaudi ArabiaNC_000001.11:g.1048939C>TUncertain SignificanceUncertain SignificanceMyasthenic Syndrome, Congenital, 8NG_016346.1:g.33817C>T; NM_198576.4:c.4178C>T; NP_940978.2:p.Thr1393Met7664628431055739
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