GENETIC ENCYCLOPEDIA
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gene: CACNA1C

id775
symbolCACNA1C
organismHomo sapiens
full namecalcium voltage-gated channel subunit alpha1 C
summaryThis gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. Some of the predicted proteins may not produce functional ion channel subunits. [provided by RefSeq, Oct 2012]
variant-disease

NM_000719.7(CACNA1C):c.1114-316G>A AND Paroxysmal familial ventricular fibrillation 1

NM_000719.6(CACNA1C):c.477+16040_477+23328del AND Gestational diabetes mellitus uncontrolled

NM_000719.7(CACNA1C):c.1113+4C>T AND not provided

NM_000719.7(CACNA1C):c.3234C>T (p.Asp1078=) AND not provided

NM_000719.7(CACNA1C):c.2449C>T (p.Pro817Ser) AND Long QT syndrome

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