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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.
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Protein Aliases: EF-hand domain (C-terminal) containing 1; EF-hand domain-containing protein 1; Myoclonin-1
Gene Aliases: 1700029F22Rik; dJ304B14.2; EFHC1; EJM1; mRib72-1; myoclonin1
UniProt ID: (Human) Q5JVL4, (Mouse) Q9D9T8
Entrez Gene ID: (Human) 114327, (Mouse) 71877
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