The DES gene homepage
| General information |
| Gene symbol |
DES |
| Gene name |
desmin |
| Chromosome |
2 |
| Chromosomal band |
q35 |
| Imprinted |
- |
| Genomic reference |
NG_008043.1 |
| Transcript reference |
NM_001927.3 |
| Associated with diseases |
WD |
| Citation reference(s) |
Pan M et al, 2011
Zhang T et al, 2010 |
| Refseq URL |
Coding DNA reference sequence |
| Curators (0) |
- |
| Total number of public variants reported |
64 |
| Unique public DNA variants reported |
55 |
| Individuals with public variants |
0 |
| Hidden variants |
- |
| Notes |
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]
Also known as: CSM1; CSM2 |
| Date created |
April 18, 2013 |
Active transcripts
| Copyright & disclaimer |
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