. 2019 Sep 30;90(Suppl 10):32–43. doi: 10.23750/abm.v90i10-S.8755

Table 1.

Genes associated with various forms of hypertrophic cardiomyopathy

Gene	OMIM gene	Disease	OMIM disease	Inheritance	Function
MYH7	160760	CMH1	192600	AD	Beta heavy chain subunit of cardiac myosin
CAV3	601253	CMH1	192600	AD	Regulates voltage-gated K⁺ channels and plays a role in sarcolemma repair in cardiomyocytes after mechanical stress
MYLK2	606566	CMH1	192600	AD	Cardiac Ca²⁺/calmodulin-dependent myosin light chain
TNNT2	191045	CMH2	115195	AD	Ca²⁺-dependent regulator of muscle contraction
TPM1	191010	CMH3	115196	AD	Ca²⁺-dependent regulator of striated muscle contraction
MYBPC3	600958	CMH4	115197	AD	Cardiac isoform of myosin-binding protein C found in cross-bridge-bearing zone (C region) of A bands
PRKAG2	602743	CMH6	600858	AD	Energy-sensing enzyme that monitors cell energy status and functions. Inhibitor of de novo biosynthesis of fatty acids and cholesterol
TNNI3	191044	CMH7	613690	AD	Cardiac mediator of striated muscle relaxation
MYL3	160790	CMH8	608751	AD	Ventricular isoform of myosin light chain 3
TTN	188840	CMH9	613765	AD	Important for assembly and functioning of striated muscles, it connects microfilaments and contributes to balance of forces between two halves of sarcomere
MYL2	160781	CMH10	608758	AD	Regulatory light chain associated with cardiac myosin beta heavy chain, promoting cardiac myofibril assembly
ACTC1	102540	CMH11	612098	AD	ACTC1 is localized in contractile apparatus of muscle tissues
CSRP3	600824	CMH12	612124	AD	Positive regulator of myogenesis; transcription cofactor for myogenic bHLH transcription factors
TNNC1	191040	CMH13	613243	AD	TNNC1 encodes Tn-C that abolishes inhibitory action of Tn on actin filaments upon Ca²⁺ binding
MYH6	160710	CMH14	613251	AD	Alpha heavy chain subunit of cardiac myosin
VCL	193065	CMH15	613255	AD	VCL encodes an actin filament-binding protein that regulates cell-matrix adhesion, cell-cell adhesion, cell-surface E-cadherin expression, mechanosensing by E-cadherin complex, cell morphology and cell locomotion
MYOZ2	605602	CMH16	613838	AD	MYOZ2 encodes myozenin that binds proteins involved in linking Z line proteins and localizing calcineurin signaling to sarcomeres. May play a role in myofibrillogenesis
JPH2	605267	CMH17	613873	AD	JPH2 is necessary for intracellular Ca²⁺ signaling in cardiac myocytes via ryanodine receptor-mediated Ca²⁺ release
PLN	172405	CMH18	613874	AD	Modulates contractility of heart muscle in response to physiological stimuli via ATP2A2 regulates Ca²⁺ reuptake during muscle relaxation and Ca²⁺ homeostasis in heart muscle
CALR3	611414	CMH19 (?)	613875	AD	Ca²⁺-binding chaperone localized in endoplasmic reticulum
NEXN	613121	CMH20	613876	AD	Essential for maintenance of sarcomere integrity
MYPN	608517	CMH22	615248	AD	Component of cardiac muscle sarcomere that links nebulette to alpha-actinin in Z lines
ACTN2	102573	CMH23 with or without LVNC	612158	AD	Localized in Z-disc of cardiac muscle where it anchors myofibrillar actin filaments
LDB3	605906	CMH24	601493	AD	Adaptor protein in striated muscle; couples protein kinase C-mediated signaling to cytoskeleton
TCAP	604488	CMH25	607487	AD	Muscle assembly regulating factor that mediates antiparallel assembly of titin molecules at sarcomere Z-disk
FLNC	102565	CMH26	617047	AD	Critical for myogenesis and structural integrity of muscle fibers

CMH=hypertrophic cardiomyopathy; LVNC=left ventricular non-compaction; AD=autosomal dominant; AR=autosomal recessive