Entrez 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].
UniProt Summary: N/A
Pfam DomainsGO Terms
Pfam Domains
Filament head
Filament
GO Terms
cardiac myofibril
fascia adherens
intermediate filament organization
actin-myosin filament sliding
muscle filament sliding
intercalated disc
intermediate filament cytoskeleton
intermediate filament cytoskeleton organization
intermediate filament-based process
cytoskeletal protein binding
neuromuscular junction
actin-mediated cell contraction
sarcolemma
structural constituent of cytoskeleton
actin filament-based movement
intermediate filament
Z disc
regulation of heart contraction
muscle contraction
regulation of blood circulation
muscle system process
supramolecular fiber organization
actin filament-based process
regulation of system process
identical protein binding
cytoskeleton organization
movement of cell or subcellular component
system process
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)