Aliases for EFHC2 Gene
External Ids for EFHC2 Gene
Previous HGNC Symbols for EFHC2 Gene
Previous GeneCards Identifiers for EFHC2 Gene
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]
GeneCards Summary for EFHC2 Gene
EFHC2 (EF-Hand Domain Containing 2) is a Protein Coding gene. Diseases associated with EFHC2 include Turner Syndrome and Norrie Disease. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is EFHC1.