DAG1 dystroglycan 1
Gene ID: 1605, updated on 17-Mar-2024Gene type: protein coding
Also known as: A3a; DAG; AGRNR; 156DAG; MDDGA9; MDDGC7; MDDGC9; LGMDR16
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- Go to complete Gene record for DAG1
- Go to Variation Viewer for DAG1 variants
Summary
This gene encodes dystroglycan, a central component of dystrophin-glycoprotein complex that links the extracellular matrix and the cytoskeleton in the skeletal muscle. The encoded preproprotein undergoes O- and N-glycosylation, and proteolytic processing to generate alpha and beta subunits. Certain mutations in this gene are known to cause distinct forms of muscular dystrophy. Alternative splicing results in multiple transcript variants, all encoding the same protein. [provided by RefSeq, Nov 2015]
Associated conditions
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| Description | Tests |
|---|---|
| Autosomal recessive limb-girdle muscular dystrophy type 2P | See labs |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 | See labs |
| Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. GeneReviews: Not available |
Genomic context
- Location:
- 3p21.31
- Sequence:
- Chromosome: 3; NC_000003.12 (49468948..49535615)
- Total number of exons:
- 9
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for DAG1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- DAG1 homepage - Leiden Muscular Dystrophy pages
- 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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