Phospho-Desmin (S60) Polyclonal Antibody, 100µg, (ATB-P1022)

Background: 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]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.Product datasheet: Overview Product Description Phospho-Desmin (S60) Polyclonal Antibody, 100µg, (ATB-P1022) Species Reactivities Human,Mouse,Rat Immunogen Synthesized peptide derived from human Desmin around the phosphorylation site of S60. Properties Form Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide. Storage Instructions-20°C/1 year Clonality Polyclonal References: New mutation of the desmin gene identified in an extended Indian pedigree presenting with distal myopathy and cardiac disease. Nalini A, et al. Neurol India, 2013 Nov-Dec. PMID 24441330 The novel desmin mutant p.A120D impairs filament formation, prevents intercalated disk localization, and causes sudden cardiac death. Brodehl A, et al. Circ Cardiovasc Genet, 2013 Dec. PMID 24200904 A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies. Cetin N, et al. J Med Genet, 2013 Jul. PMID 23687351 Desmin mutations and arrhythmogenic right ventricular cardiomyopathy. Lorenzon A, et al. Am J Cardiol, 2013 Feb 1. PMID 23168288 Free PMC Article Clinical and myopathological characteristics of desminopathy caused by a mutation in desmin tail domain. Maddison P, et al. Eur Neurol, 2012. PMID 23051780 Free PMC Article Human desmin-coding gene: complete nucleotide sequence, characterization and regulation of expression during myogenesis and development. Li Z., Lilienbaum A., Butler-Browne G., Paulin D.Gene 78:243-254(1989) [PubMed] [Europe PMC] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. High level desmin expression depends on a muscle-specific enhancer. Li Z., Paulin D.J. Biol. Chem. 266:6562-6570(1991) [PubMed] [Europe PMC] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy. Vicart P., Dupret J.-M., Hazan J., Li Z., Gyapay G., Krishnamoorthy R., Weissenbach J., Fardeau M., Paulin D.Hum. Genet. 98:422-429(1996) [PubMed] [Europe PMC] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Muscle. Missense mutations in desmin associated with familial cardiac and skeletal myopathy. Goldfarb L.G., Park K.-Y., Cervenakova L., Gorokhova S., Lee H.-S., Vasconcelos O., Nagle J.W., Semino-Mora C., Sivakumar K., Dalakas M.C.Nat. Genet. 19:402-403(1998) [PubMed] [Europe PMC] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS MFM1 PRO-337; PRO-360 AND ILE-393. Desmin mutation responsible for idiopathic dilated cardiomyopathy. Li D., Tapscoft T., Gonzalez O., Burch P.E., Quinones M.A., Zoghbi W.A., Hill R., Bachinski L.L., Mann D.L., Roberts R.Circulation 100:461-464(1999) [PubMed] [Europe PMC] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT CMD1I MET-451.