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DES desmin [Homo sapiens (human)]


RefSeq Accession Definition Services Price Order
NM_001927 Homo sapiens desmin (DES), mRNA. ORF Sequence $409.77
Peptide Services
Antibody Services
Protein Services


Gene Symbol DES
Entrez Gene ID 1674
Full Name desmin
Synonyms CMD1I, CSM1, CSM2, FLJ12025, FLJ39719, FLJ41013, FLJ41793
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

2

2q35

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].
Disorder

MIM: 125660

Myopathy, desmin-related, cardioskeletal, 601419 (3);

mRNA Protein Product Sequence Price Select
NM_001927, 55749931 NP_001918, 55749932 desmin Full Length $657.72
ORF Sequence $409.77
KEGG
hsa05412Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05410Hypertrophic cardiomyopathy (HCM)
hsa05414Dilated cardiomyopathy
Pathway Interaction Database
aurora_b_pathwayAurora B signaling
WikiPathways
WP383Striated Muscle Contraction
WP2118Arrhythmogenic right ventricular cardiomyopathy
Reactome
REACT_17044Muscle contraction
REACT_16969Striated Muscle Contraction
Homo sapiens (human)DESNP_001918.3
Pan troglodytes (chimpanzee)DESXP_526039.2
Macaca mulatta (Rhesus monkey)DESXP_001104181.1
Canis lupus familiaris (dog)DESNP_001012394.1
Bos taurus (cattle)DESNP_001075044.1
Mus musculus (house mouse)DesNP_034173.1
Rattus norvegicus (Norway rat)DesNP_071976.1
GeneCards DES
UniProt P17661, Q53SB5
MIM 125660
Ensembl ENSG00000175084
HGNC 2770
HPRD 00514

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Preferred Names
desmin
Names
desmin
intermediate filament protein

Interactant

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