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DES

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.
Protein class

Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins

Predicted location

Intracellular

Single cell type specificity

Cell type enriched (Cardiomyocytes)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Cell line enhanced (HSkMC, LHCN-M2, NB-4, RH-30)

Interaction

Homomer (PubMed:21135508). Interacts with DST (By similarity). Interacts with MTM1 (PubMed:21135508). Interacts with EPPK1; interaction is dependent of higher-order structure of intermediate filament (PubMed:16923132). Interacts with CRYAB (PubMed:28470624). Interacts with NEB (via nebulin repeats 160-164) (PubMed:23615443). Interacts (via rod region) with NEBL (via nebulin repeats 1-5) (PubMed:27733623). Interacts with ASB2 isoform 1; the interaction targets DES for proteasomal degradation (By similarity).

Molecular function

Muscle protein

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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