EFHC1

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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 ?
JAE Restaurant Group plans to remodel four Wendy's in Knoxville this year to include updated features such as fireplaces, a range of inviting seating options, Wi-Fi, flat-screen TVs and digital menu boards.
A continuacion se mostrara como Casares Gil tuvo un importante papel en instituciones como la JAE, creadas para favorecer esos intercambios con el extranjero, y contribuyo al envio de muchos pensionados al extranjero.
Jae burst on the scene when he made the semifinals two years ago at age 10.
Two additional features of DynaCon's conveyor systems also complement JAE Oregon's production line.
Saphere Jae Espley with mum Natalie Wood and dad James Espley, and enjoying a cuddle with mum, left.
Jae advised community members to keep working hard to build close relations between Korea and Qatar.
Jae Hyung Kim, currently President of Cleartrip and previously with JP Morgan Chase.
In addition, a JAE is more likely to successfully argue for more stable funding and more realistic requirements (both of which have derailed many joint programs), which in turn would increase the probability of success.
Ertugrul Gunay and South Korean Ambassador to Turkey Jae Hyun Bae opened the exhibition at the Cer Modern in the Turkish capital.
The president named Lee Jae Oh, one of his closest aides, minister for special affairs to deal with political affairs and relations with North Korea.
The Human Resources Development Service of Korea (HRD Korea) had already signed a Memorandum of Understanding with Pakistans Ministry of Labour and Manpower to import more workers, said Jeong Jae Seo, Director, HRD Korea, Pakistan Chapter.