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EFHC2 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.
Gene Name: | EF-hand Domain (C-terminal) Containing 2 |
Synonyms: | EFHC2, DJ1158H2.1 |
Target Sequences: | NM_025184 NP_079460.2 Q5JST6 |
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