Desmocollin 2 est un gène codé par le symbole DSC2. D'autres noms incluent: Desmocollin-2; Cadherin family member 2; Desmocollin-3; Desmosomal glycoprotein II; Desmosomal glycoprotein III; DSC2; CDHF2; DSC3. Desmocollin 2 a une masse de 99.96kDa, une longueur d'acide aminé de 901, et est impliqué dans Arrhythmogenic right ventricular dysplasia, familial, 11.
Nous proposons 6 des anticorps contre Desmocollin 2, élevé dans Lapin et Souris, qui sont appropriés pour le WB, IHC, ELISA, ICC/IF et Cytométrie en Flux avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
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 cells that express different isoforms.
Résumé Entrez
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.
Spécificité tissulaire
Expressed in epithelia, myocardium and lymph nodes.
Implication dans la maladie
Arrhythmogenic right ventricular dysplasia, familial, 11: A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias.
Localisation cellulaire
Cell membrane. Cell junction > Desmosome.
