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DES desmin [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001927 Homo sapiens desmin (DES), mRNA. GenEZ ORF Cloning On-demand TBD TBD

*Business Day

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Gene Symbol DES
Entrez Gene ID 1674
Full Name desmin
Synonyms CSM1, CSM2, LGMD2R
General protein information
Preferred Names
desmin
Names
desmin
intermediate filament protein
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 ORF Sequence $550.00
KEGG
hsa05412Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05414Dilated cardiomyopathy
hsa05410Hypertrophic cardiomyopathy (HCM)
WikiPathways
WP383Striated Muscle Contraction
WP2118Arrhythmogenic right ventricular cardiomyopathy
Pathway Interaction Database
aurora_b_pathwayAurora B signaling
Reactome
REACT_16969Striated Muscle Contraction
REACT_17044Muscle 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
Gallus gallus (chicken)DESXP_004942895.1
Xenopus (Silurana) tropicalis (western clawed frog)des.1NP_989134.1
Process
IDNameEvidence
GO:0006936muscle contractionTAS
GO:0007010cytoskeleton organizationTAS
GO:0008016regulation of heart contractionTAS
GO:0030049muscle filament slidingTAS
Component
IDNameEvidence
GO:0005829cytosolTAS
GO:0005882intermediate filamentIEA
GO:0005916fascia adherensIEA
GO:0030018Z discIDA
GO:0031594neuromuscular junctionIEA
GO:0042383sarcolemmaIEA
Function
IDNameEvidence
GO:0005200structural constituent of cytoskeletonTAS
GO:0005515protein bindingIPI
GO:0008092cytoskeletal protein bindingIPI
GO:0042802identical protein bindingIPI
GeneCards DES
UniProt P17661, Q53SB5
Vega OTTHUMG00000058924
MIM 125660
Ensembl ENSG00000175084
HGNC 2770
HPRD 00514

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

What is the normal function of the DES gene?

The DES gene provides instructions for making a protein called desmin. Desmin is found in heart (cardiac) muscle and muscles used for movement (skeletal muscle). Within muscle fibers, desmin proteins are important to help maintain the structure of sarcomeres, which are necessary for muscles to tense (contract). The desmin proteins surround rod-like structures called Z-discs that are located within the sarcomere. Desmin connects the Z-discs to one another, linking neighboring sarcomeres and forming myofibrils, the basic unit of muscle fibers. The connection of sarcomeres to each other to form myofibrils is essential for maintaining muscle fiber strength during repeated cycles of contraction and relaxation.

Interactant

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