Disease-gene associations mined from literature

Literature associating CACNA1C and Jervell-Lange Nielsen syndrome

CACNA1C [ENSP00000266376]

Calcium channel, L type, alpha-1 polypeptide, isoform 1, cardiac muscle; Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1C gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, benzothiazepines, and by omega-agatoxin-IIIA (omega-Aga-IIIA). They are however insensitive to omega-conotoxin- GVIA (omega-CTx-GVIA) and omega-agatoxin-IVA (omega-Aga-IVA). Calcium channels containing the alpha-1C subunit play an important role in excitation-contraction coupling in the heart. The various isoforms display marked differences in the sensitivity to DHP compounds. Binding of calmodulin or CABP1 at the same regulatory sites results in an opposit effects on the channel function; Calcium voltage-gated channel alpha1 subunits

Synonyms:  CACNA1C,  CACNA1Cp,  hCACNA1C,  E9PDI6,  F5GY28 ...

Linkouts:  STRING  Pharos  UniProt  OMIM