DSC2
MIM.125645 18q12.1
Cadherins (CDHs) et desmosomal cadherins
The cadherins (CDHs) are a superfamily of calcium-dependent glycoproteins that are cell adhesion molecules. The desmosomal cadherins are potential cell adhesion molecules of the desmosome type of cell junction by virtue of their homology to the cadherin class of cell adhesion molecules.
Two families of desmosomal cadherins are known, namely, the desmogleins (DSGs) and the desmocollins (DSCs) (MIM.125645). They are found only in the desmosome type of cell-cell junction.
Pathology
DSC2 is mutated in arrhythmogenic right ventricular cardiomyopathy (locus ARVD11 at 18q12.1) (MIM.610476) (#17186466#, #17033975#)
- Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetically heterogeneous heart-muscle disorder characterized by progressive fibrofatty replacement of right ventricular myocardium and an increased risk of sudden cardiac death.
- Germline mutations in four genes encoding major desmosomal proteins (plakoglobin, desmoplakin, plakophilin-2, and desmoglein-2) have been implicated in the pathogenesis of ARVD/C.
See also
desmocollins (DSCs)
- desmocollin-1 (DSC1) (MIM.125643)
- desmocollin-2 (DSC2) (MIM.125645)
- desmocollin-3 (DSC3) (MIM.600271)
- desmocollin-4 (DSC4) (MIM.600271)
Reviews
Huber O. Structure and function of desmosomal proteins and their role in development and disease. Cell Mol Life Sci. 2003 Sep;60(9):1872-90. PMID: #14523549#
References
Heuser A, Plovie ER, Ellinor PT, Grossmann KS, Shin JT, Wichter T, Basson CT, Lerman BB, Sasse-Klaassen S, Thierfelder L, MacRae CA, Gerull B. Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet. 2006 Dec;79(6):1081-8. PMID: #17186466#
Syrris P, Ward D, Evans A, Asimaki A, Gandjbakhch E, Sen-Chowdhry S, McKenna WJ. Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2. Am J Hum Genet. 2006 Nov;79(5):978-84. PMID: #17033975#