CACNA1F(redirected from CSNBX2)
CACNA1FA gene on chromosome Xp11.23 that encodes the alpha-1F subunit of a voltage-dependent 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. CACNA1F gives rise to long-lasting (L-type) calcium channels that belong to the high-voltage activated (HVA) group; they are blocked by dihydropyridines (DHP), phenylalkylamines, benzothiazepines and by omega-agatoxin-IIIA.
Defects in CACNA1F cause Aaland Island eye disease, cone-rod dystrophy X-linked type 3, and congenital stationary night blindness type 2A.