{"symbol":"EFHC1","synonyms":["EJM1","DJ304B14.2"],"name":"EF-hand domain (C-terminal) containing 1","description":"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]","ncbiEntrezGeneId":114327,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/114327","proteins":[{"symbol":"EFHC1_HUMAN","href":"/api/1.0/protein/EFHC1_HUMAN"}],"hgncRootFamilies":[{"name":"EF-hand domain containing","href":"/api/1.0/gene_family/EF-hand+domain+containing"}]}