基因名称(Gene Name)
DSC2 CDHF2 DSC3
蛋白名称
Desmocollin-2 (Cadherin family member 2) (Desmocollin-3) (Desmosomal glycoprotein II) (Desmosomal glycoprotein III)
免疫原
Synthesized peptide derived from human protein . at AA range: 150-230
特异性
DSC2 Monoclonal Antibody detects endogenous levels of protein.
组成
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
其他名称
SOCS1; SSI1; TIP3; Suppressor of cytokine signaling 1; SOCS-1; JAK-binding protein; JAB; STAT-induced STAT inhibitor 1; SSI-1; Tec-interacting protein 3; TIP-3
背景
This gene encodes a member of the desmocollin protein subfamily. Desmocollins, along with desmogleins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. This gene is found in a cluster with other desmocollin family members on chromosome 18. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia-11, and reduced protein expression has been described in several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015],
功能
disease:Defects in DSC2 are the cause of familial arrhythmogenic right ventricular dysplasia 11 (ARVD11) [MIM:610476]. Arrhythmogenic right ventricular dysplasia (ARVD) is an inherited myocardial disorder associated with ventricular arrhythmias, heart failure, and sudden death. The main pathologic characteristic of ARVD is loss of myocardium, predominately in the right ventricle, and its replacement with adipose and fibrous tissue. Familial ARVD is believed to account for at least 30%-50% of all cases, although penetrance in some families is estimated to be <30%.,domain:Calcium may be bound by the cadherin-like repeats .,function:Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. May contribute to epidermal cell positioning (stratification) by mediating differential adhesiveness between c
