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 (C-Terminal) Containing 2) is a Protein Coding gene. Diseases associated with EFHC2 include turner syndrome. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is EFHC1.