DES
GeneName
DES
Summary
DES, also known as desmin or desA, is a 54 kDa intermediate filament protein predominantly expressed in cardiac and skeletal muscle tissues. It plays a crucial role in maintaining the structural integrity of myofibrils and is involved in the organisation of the cytoskeleton. DES is localised at various cellular components, including the Z disc, intercalated discs, and the sarcolemma, where it contributes to cell-cell junctions and muscle contraction. Additionally, it is implicated in the organisation of the nuclear envelope and is found in the cytosol and extracellular exosomes, highlighting its diverse functional roles in muscle cells.
Importance
DES is relevant to: - Muscle diseases, such as desmin-related myopathy, due to its role in maintaining myofibril structure and function. - Cardiac health, as it regulates heart contraction and is essential for the structural organisation of cardiac myocytes. - Understanding cytoskeletal dynamics and organisation, which is critical for various cellular processes. - Research into neuromuscular junctions and their role in muscle contraction and signalling.
Top Products
For researchers investigating desmin (DES), we recommend two excellent primary antibodies that cater to various experimental needs. The first is the well-cited polyclonal antibody, Anti-Desmin antibody - Cytoskeleton Marker (ab15200), which has garnered 279 citations and is particularly effective for immunohistochemistry (IHC). This product is highly regarded in the field for its reliability and performance.In addition, we offer the recombinant antibody, Anti-Desmin antibody [SP138] - C-terminal (ab227651). This monoclonal antibody has been validated for multiple applications, including IHC, immunocytochemistry (ICC), and western blotting (WB), making it a versatile choice for researchers seeking consistent results across different assays. With 12 citations, it is gaining recognition in the research community. Together, these antibodies provide robust options for studying desmin in various contexts. The Anti-Desmin antibody [SP138] - C-terminal ELISA Kit (ab227651), supported by 12 citations, is an excellent option for researchers looking to accurately measure Desmin levels in their samples.
Abcam Product Citation Summary
The data indicates a significant focus on the use of Abcam antibodies targeting DES in various contexts, particularly in mouse models. The studies encompass a range of applications including Western Blotting (WB) and immunohistochemistry (IHC), highlighting the role of DES in muscle differentiation, tumor biology, and liver conditions. The research spans multiple species, with a notable emphasis on mouse and rat models, suggesting a strong interest in understanding DES's function in both normal physiology and disease states.
Abcam Product Citation Table
Function
Muscle-specific type III intermediate filament essential for proper muscular structure and function. Plays a crucial role in maintaining the structure of sarcomeres, inter-connecting the Z-disks and forming the myofibrils, linking them not only to the sarcolemmal cytoskeleton, but also to the nucleus and mitochondria, thus providing strength for the muscle fiber during activity (PubMed:25358400). In adult striated muscle they form a fibrous network connecting myofibrils to each other and to the plasma membrane from the periphery of the Z-line structures (PubMed:24200904, PubMed:25394388, PubMed:26724190). May act as a sarcomeric microtubule-anchoring protein: specifically associates with detyrosinated tubulin-alpha chains, leading to buckled microtubules and mechanical resistance to contraction. Required for nuclear membrane integrity, via anchoring at the cell tip and nuclear envelope, resulting in maintenance of microtubule-derived intracellular mechanical forces (By similarity). Contributes to the transcriptional regulation of the NKX2-5 gene in cardiac progenitor cells during a short period of cardiomyogenesis and in cardiac side population stem cells in the adult. Plays a role in maintaining an optimal conformation of nebulette (NEB) on heart muscle sarcomeres to bind and recruit cardiac alpha-actin (By similarity).
Involvement in disease
Myopathy, myofibrillar, 1
MFM1
A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM1 is characterized by skeletal muscle weakness associated with cardiac conduction blocks, arrhythmias, restrictive heart failure, and accumulation of desmin-reactive deposits in cardiac and skeletal muscle cells.
None
The disease is caused by variants affecting the gene represented in this entry. Mutations in the DES gene are associated with a variable clinical phenotype which encompasses isolated myopathies, pure cardiac phenotypes (including dilated cardiomyopathy, restrictive cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy), cardiac conduction disease, and combinations of these disorders. If both cardiologic and neurologic features occur, they can manifest in any order, as cardiologic features can precede, occur simultaneously with, or follow manifestation of generalized neuromuscular disease (PubMed:19879535).
Cardiomyopathy, dilated, 1I
CMD1I
A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
None
The disease is caused by variants affecting the gene represented in this entry.
Neurogenic scapuloperoneal syndrome Kaeser type
Kaeser syndrome
Autosomal dominant disorder with a peculiar scapuloperoneal distribution of weakness and atrophy. A large clinical variability is observed ranging from scapuloperoneal, limb grindle and distal phenotypes with variable cardiac or respiratory involvement. Facial weakness, dysphagia and gynaecomastia are frequent additional symptoms. Affected men seemingly bear a higher risk of sudden, cardiac death as compared to affected women. Histological and immunohistochemical examination of muscle biopsy specimens reveal a wide spectrum of findings ranging from near normal or unspecific pathology to typical, myofibrillar changes with accumulation of desmin.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
ADP-ribosylation prevents ability to form intermediate filaments.
Phosphorylation at Ser-7, Ser-28 and Ser-32 by CDK1, phosphorylation at Ser-60 by AURKB and phosphorylation at Thr-76 by ROCK1 contribute to efficient separation of desmin intermediate filaments during mitosis.
Ubiquitination by a SCF-like complex containing ASB2 isoform 1 leads to proteasomal degradation.
Sequence Similarities
Belongs to the intermediate filament family.
Cellular localization
- Cytoplasm
- Myofibril
- Sarcomere
- Z line
- Cytoplasm
- Cell membrane
- Sarcolemma
- Nucleus
- Cell tip
- Nucleus envelope
- Localizes in the intercalated disks which occur at the Z line of cardiomyocytes (PubMed:24200904, PubMed:26724190). Localizes in the nucleus exclusively in differentiating cardiac progenitor cells and premature cardiomyocytes (By similarity). PKP2 is required for correct anchoring of DES at the cell tip and nuclear envelope (By similarity).
Alternative names
Desmin, DES