IndraLab

Statements

KCNA5 activates PSMD4. 5 / 5
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"Functional mutations in the underlying KCNA5 gene have been shown to cause hereditary forms of atrial fibrillation (AF)."
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"This engineered cell line designated KCNA5 fs/fs hence resembles the genotype of a well documented patient case of lone AF caused by a heterozygous but dominant KCNA5 nonsense mutation, to lead to a loss of K v 1.5 function."
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"A gain of KCNA5 function is thought to promote AF through electrical reentry."
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"Interestingly, both loss and gain-of-function mutations in KCNA5 have been shown to cause familial AF."
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"A recent study of more than 300 patients with early-onset lone AF revealed 3 " gain-of-function " mutations in KCNA5 in addition to several loss-of-function mutations, supporting the hypothesis that AF susceptibility may be enhanced by either change in KCNA5 function."
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