EF-HA1, also known as EF-Hand Domain Family Member A1, is a protein encoded by the EFHA1 gene in humans. This protein belongs to the EF-hand domain family, known for a particular helix-loop-helix structural motif capable of binding calcium ions. The EF-hand motif is critical in calcium signaling, a vital process for various cellular functions.The EF-HA1 protein plays a role in a range of biological processes, primarily involving calcium signaling pathways. Calcium ions are crucial secondary messengers in cellular signaling, and proteins like EF-HA1 that can bind and respond to calcium are essential for proper cellular function and communication.
Specifically, EF-HA1 may be involved in neurodevelopment and neuronal functions. Its expression and activity can be particularly significant in the nervous system, where calcium signaling is crucial for neuron communication, development, and plasticity.Alterations or mutations in the EFHA1 gene or the EF-HA1 protein can lead to various neurological disorders. Research into the exact functions and implications of EF-HA1 in disease is ongoing, as understanding these proteins can lead to better insights into neurodevelopmental and neurodegenerative diseases.EF-HA1's structure, like other EF-hand proteins, allows it to undergo conformational changes upon calcium binding. This ability to change shape enables it to interact with other proteins or cellular components, triggering downstream effects in calcium-mediated signaling pathways.
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