International Scholarly Research Notices

Review Article

Cardiac Ion Channelopathies and the Sudden Infant Death Syndrome

Table 3

Genes linked to short QT syndrome.


Type	OMIM	Gene	Protein	Functional role in cardiomyocytes	Effect of mutation

			Autosomal dominant inheritance

SQT1	#609620	KCNH2 (HERG)	K_v11.1	α subunit of channel	Gain of function of
SQT2	#609621	KCNQ1 (KVLQT1)	K_v7.1 (K_vLQT1)	α subunit of channel	Gain of function of
SQT3	#609622	KCNJ2	K_ir2.1	α subunit of channel	Gain of function of
SQT4	—	CACNA1C	Ca_v1.2	subunit of channel	Loss of function of
SQT5	—	CACNB2b	Ca_vβ2b	subunit of channel	Loss of function of
SQT6	—	CACNA2D1	Ca_vα ₂δ-1	α ₂δ subunit of channel	Loss of function of

OMIM: Online Mendelian Inheritance in Man compendium of human genes and genetic phenotypes; SQT1–SQT6: short QT syndrome types 1–6; : L-type calcium current; : inward rectifier potassium current; : rapid delayed rectifier potassium current; : slow delayed rectifier potassium current.