Table 2.
Significant genes associated with Cardiomyopathies
| Gene | Protein name | OMIM ID | Chromosome location | Exon count | Amino acids | Inheritance type | Cardiomyopathy form | Functions | References |
|---|---|---|---|---|---|---|---|---|---|
| MYH7 | Beta myosin heavy chain | 160,760 | 14q12 | 40 | 1935 | AD | HCM/DCM/RCM | Beta heavy chain subunit of cardiac myosin | [49, 81–84] |
| TNNT2 | Troponin T | 191,045 | 1q32.1 | 17 | 297 | AD | HCM/DCM/RCM | Ca2 + -dependent regulator of muscle contraction | [90–97] |
| MYBPC3 | Cardiac Myosin binding protein C | 160,710 | 11p11.2 | 35 | 1274 | AD | HCM/DCM/RCM | A cardiac isoform of myosin-binding protein C was found in the cross-bridge-bearing zone (C area) of A bands | [103–106] |
| TNNI3 | Troponin I | 191,044 | 19q13.42 | 8 | 210 | AD | HCM/DCM/RCM | This cardiac mediator mediates striated muscle relaxation | [110–112] |
| TPM1 | Alpha-Tropomyosin | 191,010 | 15q22.2 | 15 | 284 | AD | HCM/DCM/RCM | Ca2 + -dependent striated muscle contraction regulator | [95, 117–122] |
| LMNA | Lamin A/C | 150,330 | 1q22 | 17 | 572 | AD | DCM/ARVC | Cardiac homeostasis is maintained | [128–132] |
| PKP2 | Plakophilin 2 | 602,861 | 12p11.21 | 14 | 881 | AR | ARVC | Plays a role in junctional plaques | [137–144] |
| DSC2 | Desmocollin | 125,645 | 18q12.1 | 18 | 901 | AD | ARVC | Major components of desmosomes | [146, 148–153] |
| DSG2 | Desmoglein 2 | 125,671 | 18q12.1 | 16 | 1118 | AD | ARVC/DCM | Ca2 + -binding transmembrane glycoprotein components of desmosomes between myocardial cells | [157–161] |
| DSP | Desmoplakin | 125,647 | 6p24.3 | 24 | 2871 | AD/AR | ARVC/DCM | It is an essential component of functional desmosomes | [167–169] |
| JUP | Plakoglobin | 173,325 | 17q21.2 | 19 | 745 | AD | ARVC | The common component of desmosomes and intermediate junctions | [146, 178–180] |
| TTN | Titin | 188,840 | 2q31.2 | 365 | 34,350 | AD | ARVC/HCM/DCM | Essential for striated muscle assembly and functioning; connects microfilaments | [186–189] |