IndraLab

Statements


CACNA1D activates PA. 2 / 2
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"Germline mutations in CACNA1D, encoding an L-type calcium channel, can also cause PA, however these mutations exclusively occur de novo due to the severity of the associated phenotype."

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"Somatic and germline mutations in CACNA1D, which encodes a voltage gated calcium channel, have been reported to cause PA, as have somatic mutations in ATP1A1 and ATP2B3, a Na + / K + ATPase and a Ca 2+ -ATPase, respectively (XREF_TABLE)."