EFHC1(redirected from dJ304B14.2)
EFHC1A gene on chromosome 6p12.3 that encodes a widely expressed EF-hand-domain protein thought to enhance calcium influx through CACNA1E and stimulate apoptosis.
Defects in EFHC1 cause juvenile myoclonic epilepsy type 1 (a subtype of idiopathic generalised epilepsy) and increase the susceptibility to juvenile absence epilepsy type 1.
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