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The protein encoded by DSC2 is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily.
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PKP3 overexpression increases the stability of other desmosomal proteins independently of the increase in DSC2 levels and regulates desmosome formation and stability by a multimodal mechanism affecting transcription, protein stability and cell border localization of desmosomal proteins.
The cardiac specific DSC2 transgenic mice develop severe biventricular cardiomyopathy.
A novel missense mutation (c.1090 G > A/p.V364 M) of DSC2 was identified in a Chinese family with arrhythmogenic right ventricular cardiomyopathy.
Data suggest juxtamembrane regions/domains of desmocollin-2 (DSC2), plakophilin 2 (PKP2 (show PKP2 ELISA Kits)), and plakophilin 3 (PKP3) are involved in desmosome formation in epithelial cells; DSC2 participates in desmosome formation in absence of desmoglein 2 (DSG2 (show DSG2 ELISA Kits)).
Oxidized low-density lipoprotein attenuated desmoglein 1 (show DSG1 ELISA Kits) and desmocollin 2 expression in human umbilical vein endothelial cells.
DSC2 promoter methylation is associated with Breast Cancer.
Homozygous founder mutation in DSC2 gene identified among Italian arrhythmogenic cardiomyopathy probands, providing evidence of the occurrence of recessive DSC2 mutations presenting with biventricular forms of the disease.
Desmocollin-2 mutations are described for dilated cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy, as well. Desmocollin-2 mutation was described in a case of arrhythmogenic biventricular cardiomyopathy
a novel Nrf2 (show GABPA ELISA Kits)-miR (show MLXIP ELISA Kits)-29-Dsc2 axis controls desmosome function and cutaneous homeostasis
ECG reliably identifies homozygous p.Gln554X desmocollin-2 carriers and may be useful as an initial step in the screening of high-risk Hutterites.
Downregulation of DSC2 is associated with arrhythmogenic cardiomyopathy.
Cardiac specific overexpression of desmocollin-2 induces necrosis, acute inflammation and patchy cardiac fibrotic remodeling leading to fulminant biventricular cardiomyopathy.
Data demonstrate that partner desmosomal cadherins Dsg2 (show DSG2 ELISA Kits) and Dsc2 play opposing roles in controlling colonic carcinoma cell proliferation through differential effects on EGFR (show EGFR ELISA Kits) signaling.
plakoglobin (show JUP ELISA Kits) (Pg) in conjunction with lymphoid enhancer-binding factor 1 (Lef-1 (show LEF1 ELISA Kits)) differentially regulates the proximal promoters of Dsc2 and Dsc3 (show DSC3 ELISA Kits)
The protein encoded by this gene is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. These desmosomal family members, along with the desmogleins, are found primarily in epithelial cells where they constitute the adhesive proteins of the desmosome cell-cell junction and are required for cell adhesion and desmosome formation. The desmosomal family members are arranged in two clusters on chromosome 18, occupying less than 650 kb combined. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia-11. Alternative splicing results in two transcript variants encoding distinct isoforms.
cadherin family member 2
, desmosomal glycoprotein II/III
, epithelial type 2 desmocollin
, desmocollin type 2
, desmocollin 2