Cardiomyopathy Classification: Ongoing Debate in the Genomics Era

Table 4

Genes associated with ARVD.

Locus	Gene	Protein	Function	References
ARVD1	TGFB3	Transforming growth factor β3	Cell signalling	[42, 43]
ARVD2	RYR2	Ryanodine receptor 2	Sarcoplasmic reticulum calcium channel	[44, 45]
ARVD3	Not known	[46]
ARVD4	Not known	[47]
ARVD5	LAMR1	Extracellular matrix glycoprotein	Cell signalling, adhesion, and migration	[48, 49]
ARVD6	PTPLA	Protein-tyrosine phosphatase-like member A	Fatty acid synthesis	[50, 51]
ARVD7	DES; ZASP	Desmosomal protein; PDZ domain protein	Dystrophin-associated glycoprotein complex, andCytoskeletal assembly	[52, 53]
ARVD8	DSP	Desmoplakin	Anchoring of intermediate filaments	[53, 54]
ARVD9	PKP2	Plakophilin 2	Cell adhesion	[55, 56]
ARVD10	DSG2	Desmoglein 2	Calcium-binding transmembrane glycoprotein	[57, 58]
ARVD11	DSC2	Desmocollin 2	Calcium-dependent glycoprotein	[59, 60]