IndraLab

Statements

CACNA1H decreases the amount of calcium(2+). 3 / 3
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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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"A rare CACNA1H variant associated with amyotrophic lateral sclerosis causes complete loss of Ca"
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