EFHC1

(redirected from EF-hand domain (C-terminal) containing 1)

EFHC1

A gene on chromosome 6p12.3 that encodes a widely expressed EF-hand-domain protein thought to enhance calcium influx through CACNA1E and stimulate apoptosis.

Molecular pathology
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.