Aliases for DES Gene
External Ids for DES Gene
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]
GeneCards Summary for DES Gene
DES (Desmin) is a Protein Coding gene. Diseases associated with DES include myopathy, myofibrillar, 1 and ovarian benign neoplasm. Among its related pathways are ERK Signaling and Cytoskeletal Signaling. GO annotations related to this gene include identical protein binding and cytoskeletal protein binding. An important paralog of this gene is LMNB2.
UniProtKB/Swiss-Prot for DES Gene
Desmin are class-III intermediate filaments found in muscle cells. In adult striated muscle they form a fibrous network connecting myofibrils to each other and to the plasma membrane from the periphery of the Z-line structures.