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EFHC1 is 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.
Gene Name: | EF-hand domain (C-terminal) containing 1 |
Synonyms: | EFHC1, DJ304B14.2, EJA1, EJM1, Myoclonin-1, JAE |
Target Sequences: | NM_018100 NP_060570.2 Q5JVL4 |
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