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EFHC2 (EF-hand domain-containing protein 2) is a gene located on the X chromosome at position Xp11.4. The protein encoded by EFHC2 is characterized by the presence of EF-hand motifs, which are helix-loop-helix structural domains capable of binding calcium ions. The EFHC2 protein is involved in various cellular processes, particularly those that are calcium-dependent, such as signal transduction and regulation of enzyme activities. EFHC2 has been implicated in neurological functions and conditions. For instance, it has been studied in the context of epilepsy, where variants in the gene are associated with increased susceptibility to juvenile myoclonic epilepsy. Additionally, EFHC2 is expressed in the brain and testis, suggesting roles in neurodevelopment and reproduction.
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