| DES |
| LOCUS ID | 1674 | ||||||||||
| GENE_SYMBOL | DES | ||||||||||
| GENE NAME | desmin | ||||||||||
| SYNONYMNS | CSM1, CSM2, LGMD2R | ||||||||||
| CHROMOSOME | 2 | ||||||||||
| HOMOLOGENE ID | 56469 |
| microRNAs | NA | NA |
| GENE 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] |
| OBSERVATIONS |
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| Complication | Evidence | PMID |
| Nephropathy | 1. In our hyperglycemia-induced nephropathy model, the expression of podocyte injury marker desmin was markedly increased in the diabetes group when compared with control. | 24969676 |