IndraLab

Statements

CACNA1H decreases the amount of calcium(2+). 3 / 3
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"Reduced Ca transient amplitudes in Cav3.2 KO cells suggest that a lack of normally present Cav3.2 channels in ventricular cardiomyocytes impairs Ca release from the SR by ryanodine receptors (RYRs)."
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"Variants located in CACNA1A and CACNA1H turned out to rather cause loss of function in Ca 2.1 and Ca 3.2 due to reduced conductance and shifted voltage dependence of activation, resulting in decreased channel activity."
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"In a previous study, using case unaffected parents trio exome analyses, we reported an ALS patient with two heterozygous CACNA1H missense mutations causing a partial loss-of-function of Ca v 3.2 channel, suggesting that rare CACNA1H variants may represent a risk factor for ALS [XREF_BIBR, XREF_BIBR]."
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