Desmocollin-2 is a protein that in humans is encoded by the DSC2 gene. [5] [6] Desmocollin-2 is a cadherin-type protein that functions to link adjacent cells together in specialized regions known as desmosomes. Desmocollin-2 is widely expressed, and is the only desmocollin isoform expressed in cardiac muscle, where it localizes to intercalated ...

2024年12月24日 · DSC2 (Desmocollin 2) is a Protein Coding gene. Diseases associated with DSC2 include Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 and Arrhythmogenic Right Ventricular Cardiomyopathy. Among its related pathways are …

The DSC2 gene provides instructions for making a protein called desmocollin-2. This protein is found in many tissues, although it appears to be particularly important in the heart muscle and skin. Desmocollin-2 is a major component of specialized structures called desmosomes.

DSC2 is a useful immunohistochemical marker for separation of Urothelial carcinoma with squamous differentiation from pure Urothelial carcinoma; The Dsc2 exhibit microtubule-dependent transport in epithelial cells but use distinct motors to traffic to the plasma membrane.

2005年4月18日 · Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a primary cardiomyopathy that is often diagnosed after an individual presents with arrhythmia findings. Presenting manifestations include heart palpitations, syncope, or even sudden death.

These data identify DSC2 mutations as a cause of ARVC in humans and demonstrate that physiologic levels of DSC2 are crucial for normal cardiac desmosome formation, early cardiac morphogenesis, and cardiac function.

Title: A homozygous DSC2 deletion associated with arrhythmogenic cardiomyopathy is caused by uniparental isodisomy. Desmocollin-2 promotes intestinal mucosal repair by controlling integrin-dependent cell adhesion and migration.

2016年6月8日 · Greenwood et al. (1997) found that the human DSC2 gene, which codes for the most widely distributed form of desmocollins, contains 17 exons ranging in size from 46 to 258 bp and spans more than 32 kb of DNA. Exon 16 is alternatively spliced, giving rise to the a and b forms of the protein.

Desmocollin-2 is a desmosomal cadherin serving as an anchor molecule required to reconstitute homeostatic intercellular adhesion with desmoglein-2. Cardiac specific lack of desmoglein-2 leads to severe cardiomyopathy, whereas overexpression does not.

2015年10月15日 · Dominant mutations in desmocollin-2 (DSC2) gene cause arrhythmogenic cardiomyopathy (ACM), a progressive heart muscle disease characterized by ventricular tachyarrhythmias, heart failure, and risk of juvenile sudden death.