Table 1 Function and population frequency of common HCM causal genes

MYH7

β-Myosin heavy chain

ATPase activity and force generation

 ~ 15

MYBPC3

Myosin-binding protein C

Regulator of myocardial contraction and relaxation

 ~ 20

TNNT2

Cardiac troponin T

Regulator of actin–myosin interaction

 ~ 2

TNNI3

Cardiac troponin I

Inhibitor of actin–myosin interaction

 ~ 2

TPM1

α-tropomyosin

Places the troponin complex on cardiac actin

 ~ 2

ACTC1

Cardiac α-actin

Major constituent of contractile apparatus

 < 1

MYL2

Regulatory myosin light chain

Affects actin–myosin dissociation and regulates contraction

 ~ 1

MYL3

Essential myosin light chain

Binds to myosin heavy chain and stabilizes myosin conformation

 < 1

CSRP3

Cysteine- and glycine-rich protein 3

a Z disk protein; establishment and maintenance of the cytoskeleton

 < 1