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Mouse Anti-DES Recombinant Antibody (4G1) (CBMAB-D0723-YC)


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Summary

Host Animal
Mouse
Specificity
Human
Clone
4G1
Antibody Isotype
IgG1
Application
FC, IHC, WB

Basic Information

Immunogen
Human fragment corresponding to amino acids 104-391 of human DES (NP_001918) produced in E.coli
Specificity
Human
Antibody Isotype
IgG1
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Storage
Store at 4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

Target

Full Name
Desmin
Introduction
DES is 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.
Entrez Gene ID
1674
UniProt ID
P17661
Alternative Names
Desmin; Intermediate Filament Protein; Cardiomyopathy, Dilated 1F (Autosomal Dominant); Mutant Desmin P.K241E; LGMD1D; LGMD1E;
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. 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).
Biological Process
Cytoskeleton organization Source: ProtInc
Intermediate filament organization Source: UniProtKB
Muscle contraction Source: ProtInc
Muscle filament sliding Source: Reactome
Regulation of heart contraction Source: ProtInc
Cellular Location
Sarcolemma; Nucleus; Cytoplasm; Z line. 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).
Involvement in disease
Myopathy, myofibrillar, 1 (MFM1):
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).
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.
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.
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.
PTM
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.
More Infomation

Kulikova, O., Brodehl, A., Kiseleva, A., Myasnikov, R., Meshkov, A., Stanasiuk, C., ... & Drapkina, O. (2021). The desmin (DES) mutation p. A337P is associated with left-ventricular non-compaction cardiomyopathy. Genes, 12(1), 121.

Fischer, B., Dittmann, S., Brodehl, A., Unger, A., Stallmeyer, B., Paul, M., ... & Schulze-Bahr, E. (2021). Functional characterization of novel alpha-helical rod domain desmin (DES) pathogenic variants associated with dilated cardiomyopathy, atrioventricular block and a risk for sudden cardiac death. International Journal of Cardiology, 329, 167-174.

Protonotarios, A., Brodehl, A., Asimaki, A., Jager, J., Quinn, E., Stanasiuk, C., ... & Lopes, L. R. (2021). The novel desmin variant p. Leu115Ile is associated with a unique form of biventricular Arrhythmogenic Cardiomyopathy. Canadian Journal of Cardiology, 37(6), 857-866.

Smolina, N., Khudiakov, A., Knyazeva, A., Zlotina, A., Sukhareva, K., Kondratov, K., ... & Kostareva, A. (2020). Desmin mutations result in mitochondrial dysfunction regardless of their aggregation properties. Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease, 1866(6), 165745.

Kubánek, M., Schimerová, T., Piherová, L., Brodehl, A., Krebsová, A., Ratnavadivel, S., ... & Kmoch, S. (2020). Desminopathy: novel desmin variants, a new cardiac phenotype, and further evidence for secondary mitochondrial dysfunction. Journal of clinical medicine, 9(4), 937.

Singh, S. R., Kadioglu, H., Patel, K., Carrier, L., & Agnetti, G. (2020). Is desmin propensity to aggregate part of its protective function?. Cells, 9(2), 491.

Brodehl, A., Pour Hakimi, S. A., Stanasiuk, C., Ratnavadivel, S., Hendig, D., Gaertner, A., ... & Milting, H. (2019). Restrictive cardiomyopathy is caused by a novel homozygous desmin (DES) mutation p. Y122H leading to a severe filament assembly defect. Genes, 10(11), 918.

Marakhonov, A. V., Brodehl, A., Myasnikov, R. P., Sparber, P. A., Kiseleva, A. V., Kulikova, O. V., ... & Skoblov, M. Y. (2019). Noncompaction cardiomyopathy is caused by a novel in‐frame desmin (DES) deletion mutation within the 1A coiled‐coil rod segment leading to a severe filament assembly defect. Human Mutation, 40(6), 734-741.

Brodehl, A., Gaertner-Rommel, A., & Milting, H. (2018). Molecular insights into cardiomyopathies associated with desmin (DES) mutations. Biophysical reviews, 10(4), 983-1006.

Schirmer, I., Dieding, M., Klauke, B., Brodehl, A., Gaertner‐Rommel, A., Walhorn, V., ... & Milting, H. (2018). A novel desmin (DES) indel mutation causes severe atypical cardiomyopathy in combination with atrioventricular block and skeletal myopathy. Molecular genetics & genomic medicine, 6(2), 288-293.

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For research use only. Not intended for any clinical use.

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