靶标:
Efhc1
产品别名:
1700029F22Rik; mRib72-1; myoclonin1; Efhc1; EF-hand domain (C-terminal) containing 1; EF-hand domain (C-terminal) containing 1; EF-hand domain-containing protein 1; myoclonin-1; EFHC1蛋白;
背景信息:
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.