Gene Symbol | EFHC2 |
Entrez Gene ID | 80258 |
Full Name | EF-hand domain containing 2 |
Synonyms | MRX74,dJ1158H2.1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a protein which contains three DM10 domains and three calcium-binding EF-hand motifs. A related protein is encoded by a gene on chromosome 6. It has been suggested that both proteins are involved in the development of epilepsy (PMID: 15258581, 16112844) and that this gene may be associated with fear recognition in individuals with Turner syndrome. [provided by RefSeq, Aug 2011]. |
Disorder MIM: |