IndraLab

Statements

CACNA1C activates TYMS. 6 / 6
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"Timothy syndrome (TS) is an autosomal dominant disorder, and is caused by a mutation in the cacna1c gene encoding the calcium channel Ca v 1.2 subunit."
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"A point mutation in the gene encoding Cav1.2 (CACNA1C) causes Tymothy syndrome (TS), a multisystem disorder featuring cardiac arrhythmias, autism spectrum disorder (ASD) and adrenal gland dysfunction."
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"The same rare specific allele of CACNA1C, a gene that encodes the " cardiac expressed " voltage gated calcium channel, was found to cause TS in all 12 original de novo unrelated cases, suggesting that there must be only a very limited range of changes to channel function that create the diverse tissue phenotypes."
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"TS is caused by p.Gly406Arg mutation in the CACNA1C."
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"Timothy syndrome type 1 is caused by a recurrent de novo mutation (p.Gly406Arg) in exon 8A of the L-type calcium channel gene CACNA1C."
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"This is the same syndrome caused by dominant loss-of-function alleles at CACNA1C, where a gain-of-function allele causes TS."
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