CACNA1C

(redirected from CACH2)

CACNA1C

A gene on chromosome 12p13.3 that encodes the alpha-1C subunit of a voltage-dependent N-type calcium channel, which mediates the entry of calcium ions into excitable cells. These channels are also involved in various calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and apoptosis. CACNA1C is the pore-forming subunit of an N-type voltage-dependent calcium channel, which controls neurotransmitter release from neurons.

Molecular pathology
Defects of CACNA1C cause Timothy syndrome and Brugada syndrome type 3.
References in periodicals archive ?
3]) (%) Excelente LT, OR2 25,08 1,14 65,90 Muy Bueno OR4, OG, MV, CV, CH 23,09 1,16 72,24 Regular ER, CACH2, ESC 18,85 1,34 81,20 Malo MA, CACH1 14,99 1,36 82,30 Clase de sitio Fe Ca/K (Ca+Mg)/K MO Limo mg x [l.