Human Desmin ELISA Kit | DES elisa kit

Desmin Human ELISA Kit

Cat. Num. AAA355265

• Gene Names: DES; CSM1; CSM2; LGMD2R
• Reactivity: Human
• Applications: ELISA
• Synonyms: Desmin; Desmin Human ELISA Kit; Human Desmin; DES elisa kit

• Reactivity: Human

• Applicable Applications for DES elisa kit: Quantitative sELISA (EIA)
• Application Notes: For quantitative detection of Desmin in Human serum, plasma, urine, cell culture supernatant or tissue samples.
• Assay Type: Sandwich
• Detection Range: 10 ng/ml-450 ng/ml
• Preparation and Storage: Store at 2-8 degree C for 6 months.

Typical Testing Data/Standard Curve (for reference only)

Related Product Information for DES elisa kit

Principle of the Assay: This kit was based on standard sandwich enzyme-linked immune-sorbent assay technology. The purified anti-Desmin antibody was pre-coated onto 96-well plates. And the HRP conjugated anti-Desmin antibody was used as detection antibodies. The standards, test samples and HRP conjugated detection antibody were added to the wells subsequently, mixed and incubated, then, unbound conjugates were washed away with wash buffer. TMB substrates (A & B) were used to visualize HRP enzymatic reaction. TMB was catalyzed by HRP to produce a blue color product that changed into yellow after adding acidic stop solution. The density of yellow is proportional to the Desmin amount of sample captured in plate. Read the O.D. absorbance at 450nm in a microplate reader, and then the concentration of Desmin can be calculated.

Background: Desmin is a type III intermediate filament found near the Z line in sarcomeres. It was first described in 1976, first purified in 1977, the gene was cloned in 1989, and the first knock-out mouse was created in 1996. It is one of the earliest myogenic markers, both in heart and somites, and is expressed in satellite stem cells and replicating myoblasts. The desmin provides attachments between the terminal Z disc and membrane-associated proteins to form a force-transmitting system that parallels the thin filaments at myotendinous junctions. Desmin is also important in muscle cell architecture and structure since it connects many components of the cytoplasm. Finally, desmin may be important in mitochondria function. When desmin is not functioning properly there is improper mitochondrial distribution, number, morphology and function.

NCBI and Uniprot Product Information

• NCBI GI #: 55749932
• NCBI GeneID: 1674
• NCBI Accession #: NP_001918.3
• NCBI GenBank Nucleotide #: NM_001927.3
• UniProt Accession #: P17661; Q15787; Q549R7; Q549R8; Q549R9; Q8IZR1; Q8IZR6; Q8NES2; Q8NEU6; Q8TAC4; Q8TCX2; Q8TD99
• Molecular Weight: 53,536 Da
• NCBI Official Full Name: desmin
• NCBI Official Synonym Full Names: desmin
• NCBI Official Symbol: DES
• NCBI Official Synonym Symbols: CSM1; CSM2; LGMD2R
• NCBI Protein Information: desmin; intermediate filament protein
• UniProt Protein Name: Desmin
• Protein Family: Desmin
• UniProt Gene Name: DES
• UniProt Entry Name: DESM_HUMAN

NCBI Description

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]

Uniprot Description

Function: Desmin are class-III intermediate filaments found in muscle cells. 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.

Subunit structure: Homopolymer. Interacts with DST

By similarity. Interacts with MTM1. Ref.12

Subcellular location: Cytoplasm.

Post-translational modification: ADP-ribosylation prevents ability to form intermediate filaments

By similarity.

Involvement in disease: Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]: A neuromuscular disorder characterized by skeletal muscle weakness associated with cardiac conduction blocks, arrhythmias, restrictive heart failure, and by myofibrillar destruction with intracytoplasmic accumulation of desmin-reactive deposits in cardiac and skeletal muscle cells.Note: The disease is caused by mutations 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 (Ref.27). Ref.4 Ref.6 Ref.7 Ref.9 Ref.15 Ref.16 Ref.17 Ref.18 Ref.19 Ref.20 Ref.21 Ref.22 Ref.23 Ref.25 Ref.26 Ref.27 Ref.28 Ref.30 Ref.31Cardiomyopathy, dilated 1I (CMD1I) [MIM:604765]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5Neurogenic scapuloperoneal syndrome Kaeser type (Kaeser syndrome) [MIM:181400]: 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.Note: The disease is caused by mutations affecting the gene represented in this entry.

Sequence similarities: Belongs to the intermediate filament family.