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 discs. Mutations in DSC2 have been causally linked to arrhythmogenic right ventricular cardiomyopathy.[7]
- ^ a b c GRCh38: Ensembl release 89: ENSG00000134755 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024331 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Amagai M, Wang Y, Minoshima S, Kawamura K, Green KJ, Nishikawa T, Shimizu N (January 1995). "Assignment of the human genes for desmocollin 3 (DSC3) and desmocollin 4 (DSC4) to chromosome 18q12". Genomics. 25 (1): 330–2. doi:10.1016/0888-7543(95)80154-E. PMID 7774948.
- ^ "Entrez Gene: DSC2 desmocollin 2".
- ^ Brodehl A, Belke DD, Garnett L, Martens K, Abdelfatah N, Rodriguez M, et al. (2017-03-24). Gupta S (ed.). "Transgenic mice overexpressing desmocollin-2 (DSC2) develop cardiomyopathy associated with myocardial inflammation and fibrotic remodeling". PLOS ONE. 12 (3): e0174019. Bibcode:2017PLoSO..1274019B. doi:10.1371/journal.pone.0174019. PMC 5365111. PMID 28339476.