Table 1.
Genes implicated in HCM.
| Gene | Protein | Chromosome | Frequency (%) |
|---|---|---|---|
| Myofilament genes | |||
| TTN | Titin | 2 | 1 |
| MYH7 | β-Myosin heavy chain | 14 | 15–25 |
| MYH6 | α-Myosin heavy chain | 14 | 1 |
| MYL2 | Regulatory myosin light chain | 12 | 2 |
| MYL3 | Essential myosin light chain | 3 | 1 |
| MYBPC3 | Myosin-binding protein C | 11 | 15–25 |
| TNNT2 | Cardiac troponin T | 1 | 5 |
| TNNI3 | Cardiac troponin I | 19 | 5 |
| TPM1 | α-Tropomyosin | 15 | 5 |
| ACTC | Cardiac α-actin | 15 | 1 |
| TNNC1 | Cardiac troponin C | 3 | 1 |
| Genes of Z disk | |||
| LBD3 | Lim domain binding 3 | 10 | 1–5 |
| CSRP3 | Cysteine- and glycine-rich protein 3 | 17 | 1 |
| TCAP | Tcap (telethonin) | 17 | 1 |
| VCL | Vinculin/Metavinculin | 10 | 1 |
| ACTN2 | Actinin, α2 | 1 | 1 |
| MYOZ2 | Myozenin 2 (calsarcin 1) | 4 | 1 |
| NEXN | Nexilin | 1 | <1 |
| Calcium controlling genes | |||
| JPH2 | Junctophilin-2 | 20 | 1 |
| PLN | Phospholamban | 6 | 1 |