Synonyms:CDCD3, CSM1, CSM2, DES, ENTREZ:1674, HGNC:2770, LGMD1D, LGMD1E, LGMD2R, MIM:125660, NM_001382708, NM_001382709, NM_001382710, NM_001382711, NM_001382712, NM_001382713, NM_001927, NP_001369637, NP_001369638, NP_001369639, NP_001369640, NP_001369641, NP_001369642, NP_001918, desmin
Omim:OMIM:125660
Id:d8447c98-9287-59d0-a130-aaa3384b7e25
Hgnc:HGNC:2770
Description:desmin
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]