EFHC1 Rabbit pAb

This gene encodes an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in calcium homeostasis. Mutations in this gene have been associated with susceptibility to juvenile myoclonic epilepsy and juvenile absence epilepsy. Alternatively spliced transcript variants have been described. Synonyma: EJM1, POC9, RIB72, dJ304B14.2, EFHC1