Entrez gene ID | | 114327 |
Official gene symbol | | EFHC1 |
Full name | | EF-hand domain (C-terminal) containing 1 |
Aliases | | ,FLJ10466,FLJ37290,dJ304B14.2, |
Gene 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] |
Location | | Chromosome: 6 Locus: 6p12.3 |
Gene position | | 52284994 - 52360583 Map Viewer |
Gene orientation | | plus |
Gene size | | 75590 bp |
Gene sequence |
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OMIM ID | | 608815 |