EFHC1

(redirected from EJA1)

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.
References in periodicals archive ?
Modalidad de la educacion media Estadistica Regular Tecnico y EJA1 profesional Insuficiente a regular 60,5 69,1 79,3 Bueno a regular 37,2 29,9 20,4 Bueno a excelente 2,3 1,0 0,3 Total 100,0 100,0 100,0 Jornada de la educacion media Estadistica Solo Mayor Mayor Solo diurno parte parte diurno nocturno Insuficiente a regular 56,9 63,0 67,4 77,5 Bueno a regular 40,2 34,3 32,4 22,3 Bueno a excelente 2,9 2,7 0,3 0,3 Total 100,0 100,0 100,0 100,0 Fuente: Elaboracion Propia.