DES

GENE INFORMATION

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Gene name

DES (HGNC Symbol)

Synonyms

CMD1I, CSM1, CSM2

Description

desmin (HGNC Symbol)

Entrez gene 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]

Chromosome

2 (Chromosome progress)

Cytoband

q35

Chromosome location (bp)

220283099 - 220291461

Ensembl

ENSG00000175084 (version 73.37)

Entrez gene

1674

UniProt

P17661 (UniProt - Evidence at protein level)

neXtProt

NX_P17661

Antibodypedia

DES antibodies
 

PROTEIN VIEW

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DES-001
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

DES-001 ENSP00000363071
ENST00000373960
P17661
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