AGRN agrin
Gene ID: 375790, updated on 4-Jan-2025Gene type: protein coding
Also known as: CMS8; AGRIN; CMSPPD
- See all available tests in GTR for this gene
- Go to complete Gene record for AGRN
- Go to Variation Viewer for AGRN variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Congenital myasthenic syndrome 8 | See labs |
Genomic context
- Location:
- 1p36.33
- Sequence:
- Chromosome: 1; NC_000001.11 (1020120..1056116)
- Total number of exons:
- 42
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for AGRN variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- AGRN homepage - Leiden Muscular Dystrophy pages
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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