Humpath.com - Human pathology

Home > A. Molecular pathology > DES

DES

2q35 HGNC:2770 MIM.125660

Tuesday 25 January 2011

The DES 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.

See also

- intermediate filaments