DES desmin
Gene ID: 1674, updated on 2-Nov-2024Gene type: protein coding
Also known as: CSM1; CSM2; CDCD3; LGMD1D; LGMD1E; LGMD2R
- See all available tests in GTR for this gene
- Go to complete Gene record for DES
- Go to Variation Viewer for DES variants
Summary
This gene encodes a muscle-specific class III intermediate filament. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plasma membrane. Mutations in this gene are associated with desmin-related myopathy, a familial cardiac and skeletal myopathy (CSM), and with distal myopathies. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Desmin-related myofibrillar myopathy | not available |
| Dilated cardiomyopathy 1I | not available |
| Neurogenic scapuloperoneal syndrome, Kaeser type | not available |
| Primary dilated cardiomyopathy MedGen: C0007193GeneReviews: Dilated Cardiomyopathy Overview | not available |
Genomic context
- Location:
- 2q35
- Sequence:
- Chromosome: 2; NC_000002.12 (219418377..219426734)
- Total number of exons:
- 9
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for DES variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ARVD/C Genetic Variants Database - DES
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- DES homepage - Leiden Muscular Dystrophy pages
- Human Intermediate Filament Database DES
- 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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