EFHC1, Official Symbol EFHC1provided by HGNC Official Full Name EF-hand domain containing 1provided by HGNC Primary source HGNC:HGNC:16406 See related Ensembl:ENSG00000096093 MIM:608815; AllianceGenome:HGNC:16406 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as EJM1; POC9; RIB72; dJ304B14.2 Summary 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] Expression Broad expression in testis (RPKM 8.2), thyroid (RPKM 5.9) and 24 other tissues See more Orthologs mouse all