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EFHC1

Official Full Name
EF-hand domain containing 1
Organism
Homo sapiens
GeneID
114327
Background
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]
Synonyms
EJM1; POC9; RIB72; dJ304B14.2;

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