Desmocollin 2 è un gene codificato dal simbolo DSC2. Altri nomi includono: Desmocollin-2; Cadherin family member 2; Desmocollin-3; Desmosomal glycoprotein II; Desmosomal glycoprotein III; DSC2; CDHF2; DSC3. Desmocollin 2 ha una massa di 99.96kDa, una lunghezza di amminoacidi di 901, ed è implicato in Arrhythmogenic right ventricular dysplasia, familial, 11.
Offriamo 6 anticorpi contro Desmocollin 2, allevati nel Coniglio e Topo, che sono adatti per WB, IHC, ELISA, ICC/IF e Citometria a Flusso con campioni derivati da Umano, Topo e Ratto.
Informazioni su geni e proteine
Riepilogo 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.
Sommario di 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.
Specificità del tessuto
Expressed in epithelia, myocardium and lymph nodes.
Coinvolgimento nella malattia
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.
Posizione cellulare
Cell membrane. Cell junction > Desmosome.
