EFHC1( Human )

Entrez Gene 114327 Entrez Gene 114327
EF-hand domain containing 1

Alias

EJM1|dJ304B14.2

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. [provided by RefSeq, Feb 2010].

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