IndraLab

Statements

Mutated KCNH2 activates LQT2. 6 / 6
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"The identification of a KCNH2 mutation that causes LQT2 by an isoform switch mechanism highlights the functional significance of Kv11.1 isoform expression [XREF_BIBR]."
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"[31] reported an I593R mutation in HERG, all confirming that mutation of HERG causes LQT2."
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"LQT2 is caused by mutations of the HERG or KCNE2 genes."
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"More than 500 hERG mutations having been identified, amongst which majority caused LQT2 due to HERG protein trafficking deficiency [XREF_BIBR]."
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"In the case of LQT type 1 (LQT1), the mutations are present in the KCNQ1 gene which encodes the alpha-subunit of the slow component of the delayed rectifier potassium current (K v 7.1), whereas LQT2 is caused by mutations of the KCNH2 gene which encodes the alpha-subunit of the rapid component of the delayed rectifier potassium current (K v 11.1)."
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"Functional impairment of the hERG channel can result in inherited and acquired long QT syndrome type 2 (LQT2), caused by mutations of the hERG or off-target effects of diverse therapeutic agents, respectively [XREF_BIBR]."
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