CACNA1F

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CACNA1F

A 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.

Molecular pathology
Defects in CACNA1F cause Aaland Island eye disease, cone-rod dystrophy X-linked type 3, and congenital stationary night blindness type 2A.
References in periodicals archive ?
An English translation of the article is given in OA2 in the Online Appendix.
201-6901 72nd St., Delta, British Columbia, Canada V4G OA2
The scientists investigated one of the ocean's most extreme periods of deoxygenation, known as Oceanic Anoxic Event 2, or OA2. It led to a catastrophic global extinction of marine animals 94 million years ago, when dinosaurs roamed the Earth.
Green Road, Oartford OA2 80H, Kent, UK T: +44 (0)1474 705168 F: +44 (0)1474 705366 E: technical@kemo.com
The tests showed that in all beams containing no transverse reinforcement (Beams OA1, OA2, and OA3), failure was sudden with no ductility beyond the peak load.
San Diego, CA, July 15, 2015 --(PR.com)-- Award-winning jazz pianist and OA2 Recording Artist Danny Green will tour the California coast from August 6 through 13 in the following cities to promote his new album After The Calm:
Each dietary treatment consisted of CON (basal diet), OA1 (basal diet+0.1% organic acids) and OA2 (basal diet+0.2% organic acids).
The OA output is connected to the ADC input channel assigned to the OAxOut pin (OA0, OA1, and OA2 with CH0, CH1, and CH2, resp.).
Las muestras se amplificaron en un termociclador automatico PTC-100 MJ Research y los productos de PCR se visualizaron mediante electroforesis en geles de agarosa (P1/P7 1.0%, R16mF2/R16mR1 1.3%, OA2 y OI2c 1.0%) tenidos con bromuro de etidio (0.1 [micron]g [mL.sup.-1]) en buffer TAE 1X, usando un transiluminador de luz UV GVM20 Syngene.
Patient Age Sex Disease duration Presurgical (years) CRP (mg/dL) RA1 72 F 17 1.9 RA2 58 F 9 1.5 RA3 63 M 21 2.7 RA4 65 F 15 <1 RA5 59 M 6 3.2 RA6 66 F 8 <1 RA7 61 F 13 5.3 OA1 72 F -- <1 OA2 75 M -- <1 OA3 69 M -- <1 OA4 74 M -- 3.3 OA5 68 F -- <1 OA6 70 M -- 2.8 C1 39 M -- C2 45 M -- C3 43 F -- Patient Presurgical DAS 28 Medications ESR (mm/h) RA1 17 2.42 MTX 10 mg qw LEF 20 mg qd RA2 21 2.16 MTX 12.5 mg qw LEF 1 0mg qd RA3 13 1.87 Pred.