靶标:
DSC2
产品别名:
ARVD11; CDHF2; DG2; DGII/III; DSC3; DSC2; desmocollin 2; desmocollin 2; desmocollin-2; cadherin family member 2; desmosomal glycoprotein II/III; 桥粒糖蛋白2/桥粒糖蛋白3; 桥粒芯胶粘蛋白2(DSC2);
背景信息:
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],