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.
蛋白别名: EF-hand domain (C-terminal) containing 1; EF-hand domain-containing protein 1; Myoclonin-1
基因别名: 1700029F22Rik; dJ304B14.2; EFHC1; EJM1; mRib72-1; myoclonin1