Antibody (Suitable for clinical applications)
Specification | Recommendation |
---|---|
Recommended Dilution (Conc) | 1:20-1:40 |
Pretreatment | Citrate Buffer pH 6.0 |
Incubation Parameters | 30 min at Room Temperature |
Prior to use, inspect vial for the presence of any precipitate or other unusual physical properties. These can indicate that the antibody has degraded and is no longer suitable for patient samples. Please run positive and negative controls simultaneously with all patient samples to account and control for errors in laboratory procedure. Use of methods or materials not recommended by enQuire Bio including change to dilution range and detection system should be routinely validated by the user.
Desmin Information for Pathologists
Summary:
53 kDa intermediate filament first described in 1976 (Proc Natl Acad Sci USA 1976;73:4344), present near the Z line in sarcomeres, present in cardiac, smooth and striated muscle (Wikipedia). Expressed before actin in myoblasts. Variable expression in myofibroblasts. Uses by pathologists Common stain used in panels for mesenchymal markers.
Common Uses By Pathologists:
Common stain used in panels for mesenchymal markers. Confirms myogenic origin of tissue / tumors. Helps differentiate smooth muscle tumors (desmin+) from GIST (c-kit+, almost always desmin-). In serous effusion, more common in reactive mesothelial cells (84%) than mesothelioma (8%) or carcinoma (2%, Am J Surg Pathol 2001;25:1405). Diagrams / tables
Desmin General Information | |
---|---|
Alternate Names | |
Molecular Weight | |
53.5 kDa | |
Chromosomal Location | |
q35 [chr: 2] [chr_start: 219418377] [chr_end: 219426739] [strand: 1] | |
Curated Database and Bioinformatic Data | |
Gene Symbol | DES |
Entrez Gene ID | 1674 |
RefSeq Protein Accession(s) | NP_001918 |
RefSeq mRNA Accession(s) | ; NM_001927 |
RefSeq Genomic Accession(s) | NC_000002; NG_008043 |
UniProt ID(s) | P17661 |
PharmGKB ID(s) | PA27253 |
KEGG Gene ID(s) | hsa:1674 |
Associated Diseases (KEGG IDs) | Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]: 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. {ECO:0000269|PubMed:10545598, ECO:0000269|PubMed:10717012, ECO:0000269|PubMed:10905661, ECO:0000269|PubMed:11061256, ECO:0000269|PubMed:11668632, ECO:0000269|PubMed:12620971, ECO:0000269|PubMed:12766977, ECO:0000269|PubMed:14648196, ECO:0000269|PubMed:14711882, ECO:0000269|PubMed:14724127, ECO:0000269|PubMed:15495235, ECO:0000269|PubMed:15800015, ECO:0000269|PubMed:16009553, ECO:0000269|PubMed:16376610, ECO:0000269|PubMed:16865695, ECO:0000269|PubMed:17221859, ECO:0000269|PubMed:18061454, ECO:0000269|PubMed:19879535, ECO:0000269|PubMed:20829228, ECO:0000269|PubMed:22106715, ECO:0000269|PubMed:22395865, ECO:0000269|PubMed:23615443, ECO:0000269|PubMed:23687351, ECO:0000269|PubMed:25394388, ECO:0000269|PubMed:27733623, ECO:0000269|PubMed:28470624, ECO:0000269|PubMed:9697706, ECO:0000269|PubMed:9736733}. 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 (PubMed:19879535). {ECO:0000269|PubMed:19879535}.; Cardiomyopathy, 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. {ECO:0000269|PubMed:10430757, ECO:0000269|PubMed:24200904, ECO:0000269|PubMed:26724190}. The disease is caused by mutations affecting the gene represented in this entry.; Neurogenic 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. {ECO:0000269|PubMed:17439987, ECO:0000269|PubMed:25394388}. The disease is caused by mutations affecting the gene represented in this entry. |
General Description of Desmin . | |
This antibody reacts with desmin protein of 53 kDa. Both striated as well as smooth muscle cells stain well with this antibody. The antibody shows a broad interspecific cross-reactivity, reacting with human. |
There are no reviews yet.