C17orf57 Inhibitors

EF-hand calcium binding domain 13, abbreviated as EFHD2, is a protein in humans encoded by the EFHD2 gene. This protein belongs to a family characterized by EF-hand motifs, which are helix-loop-helix structural domains capable of binding calcium ions. EFHD2 is composed of two EF-hand motifs followed by a coiled-coil region and a C-terminal SH3 domain-binding motif. These structural features play a critical role in its function as a calcium sensor and mediator of various calcium-dependent signaling pathways.The EF-hand motifs of EFHD2 undergo a conformational change upon calcium binding, which can modulate the protein's interaction with other cellular components and influence signal transduction processes. The calcium-binding activity of EFHD2 is essential for its involvement in the regulation of the actin cytoskeleton, contributing to cell motility, shape, and potentially to the formation of cellular protrusions such as filopodia.

EFHD2 is widely expressed in various tissues and has been implicated in several physiological and pathological processes. One such role is in the immune system, where it is involved in the regulation of B cell function and may influence the immune response. Additionally, EFHD2 has been studied in the context of neurodegenerative diseases, where its overexpression is associated with the formation of amyloid-beta plaques, a hallmark of Alzheimer's disease pathology.Apart from its role in health, alterations in EFHD2 expression and function have been linked to cancer progression and metastasis, suggesting that it may contribute to tumor cell migration and invasion. Due to its involvement in critical cellular processes, EFHD2 continues to be an area of interest for research, providing insights into calcium signaling mechanisms and their implications for disease.