International Scholarly Research Notices

Review Article

Cardiac Ion Channelopathies and the Sudden Infant Death Syndrome

Table 1

Genes linked to long QT syndrome.


Type	OMIM	Gene	Protein	Functional role in cardiomyocytes	Effect of mutation

			Autosomal dominant inheritance

LQT1	#192500	KCNQ1 (KVLQT1)	K_v7.1 (K_vLQT1)	α subunit of channel	Loss of function of
LQT2	#613688	KCNH2 (HERG)	K_v11.1	α subunit of channel	Loss of function of
LQT3	#603830	SCN5A	Na_v1.5	α subunit of channel	Gain of function of
LQT4	#600919	ANK2	Ankyrin-B	Anchoring protein	Loss of function of multiple ion channels and transporters
LQT5	#613695	KCNE1	KCNE1 (minK)	β subunit of channel	Loss of function of
LQT6	#613693	KCNE2	KCNE2 (MiRP1)	β subunit of channel	Loss of function of
LQT7^‡	#170390	KCNJ2	K_ir2.1	α subunit of channel	Loss of function of
LQT8^†	#601005	CACNA1C	Ca_v1.2	α _1C subunit of channel	Gain of function of
LQT9	#611818	CAV3	Caveolin-3	Caveolar coating	Gain of function of
LQT10	#611819	SCN4B	Na_vβ4	β subunit of channel	Gain of function of
LQT11	#611820	AKAP9	Yotiao	Anchoring protein for PKA regulatory subunit	Loss of function of
LQT12	#612955	SNTA1	α ₁-syntrophin	Scaffolding protein	Gain of function of
LQT13	#613485	KCNJ5	K_ir3.4	α subunit of channel	Loss of function of

			Autosomal recessive inheritance

JLN1	#220400	KCNQ1 (KVLQT1)	K_v7.1 (K_vLQT1)	α subunit of channel	Loss of function of
JLN2	#612347	KCNE1	KCNE1 (minK)	β subunit of channel	Loss of function of

OMIM: Online Mendelian Inheritance in Man compendium of human genes and genetic phenotypes; LQT1– LQT13: long QT syndrome types 1–13; JLN1 and JLN2: Jervell and Lange-Nielsen syndrome types 1 and 2; : L-type calcium current; : acetylcholine-sensitive potassium current; : inward rectifier potassium current; : rapid delayed rectifier potassium current; : slow delayed rectifier potassium current; : fast sodium current.
^‡Also known as Andersen’s syndrome or Andersen-Tawil syndrome
^†Also known as Timothy syndrome.