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. 2019 Aug 16;20(16):3986. doi: 10.3390/ijms20163986

Table 1.

Lists of genes involved in ACM pathogenesis.

Gene Coding Protein Locus Reference
desmosomal mutations JUP Junction Plakoglobin 17q21.2 [35]
DSP Desmoplakin 6p24.3 [36]
PKP2 Plakophilin 2 12p11.21 [37]
DSG2 Desmoglein 2 18q12.1 [38,39]
DSC2 Desmocollin 2 18q12.1 [40]
non-desmosomal mutations TMEM43 Transmembrane protein 43 3p25.1 [41]
LMNA Lamin A/C 1q22 [42]
DES Desmin 2q35 [43]
CTNNA3 Alpha-T-catenin 10q21.3 [44]
PLN Phospholamban 6q22.31 [45]
TGFB3 Transforming growth factor-3 14q24.3 [27,46]
TTN Titin 2q31.2 [47]
SCN5A Sodium voltage gated channel alpha subunit 5 (NaV 1.5) 3p22.2 [48]
CDH2 Cadherin C 18q12.1 [49]
RYR2 Type 2 ryanodine receptor 1q42-q43 [50,51]