IndraLab
Statements
reach
"[XREF_BIBR, XREF_BIBR, XREF_BIBR, XREF_BIBR] While the majority of LQT1-causative KCNQ1 mutations appear to form functional Kv7.1 alpha-subunits capable of co-assembling with wild-type Kv7.1 alpha-subunits and thereby exerting a dominant negative effect on the I Ks current (> = 50% reduction), the majority of LQT2-causative KCNH2 mutations produce mutant Kv11.1 alpha-subunits that are improperly folded, retained in the endoplasmic reticulum, or otherwise fail to make it to the cell surface resulting in haploinsufficiency and < = 50% reduction in the I Kr current."