EFHC1

EFHC1, also known as EF-hand domain-containing protein 1, is a gene in humans that encodes a protein of the same name. The EFHC1 protein is thought to be involved in neuronal development and function, and mutations in the EFHC1 gene have been strongly linked to certain forms of juvenile myoclonic epilepsy (JME).

The EFHC1 gene is located on chromosome 6p12.2. The encoded protein contains an EF-hand motif, which is a calcium-binding domain. It is believed that this calcium-binding capacity plays a role in the protein's function within the cell.

Research suggests EFHC1 is localized to the centrosome and cilia, structures crucial for cell division and signaling. Its involvement in these cellular structures further supports its role in neurodevelopment.

Mutations in EFHC1 are considered a significant genetic factor in JME, particularly in certain populations. These mutations can lead to various functional impairments, ultimately contributing to the epileptic phenotype. Studies are ongoing to fully elucidate the precise molecular mechanisms by which EFHC1 mutations cause epilepsy. Further research aims to identify potential therapeutic targets based on the understanding of EFHC1's function.