重组人EFCAB7蛋白

补充信息

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EFCAB7 also known as EF-hand calcium-binding domain 7 is a protein that interacts primarily with molecular processes within cells. It possesses a mass of approximately 55 kDa. Researchers find EFCAB7 expressed mainly in human tissues with particular emphasis in the brain and testes. The protein shows involvement in calcium binding due to the presence of EF-hand motifs which plays a role in modulating its function.

Biological function summary

EFCAB7 contributes to essential cellular functions beyond just calcium binding. It acts as a part of protein complexes that regulate intracellular signaling pathways. Studies show that EFCAB7 plays a role in cilia formation and function which is important for cell motility and signaling. Its interaction with other proteins highlights its significance in cellular dynamics and homeostasis.

Pathways

Scientists have identified EFCAB7 as a critical participant in the primary cilium biogenesis pathway. This involvement links it with the Sonic Hedgehog signaling pathway an important pathway for embryonic development and cell differentiation. EFCAB7 also interacts with Nek1 a kinase known for its role in ciliogenesis indicating a cooperative functionality between these proteins within these pathways.

Alterations or dysregulation in EFCAB7 can impact conditions such as Joubert syndrome a ciliopathy affecting brain development. The protein's interaction with Nek1 also connects it to polycystic kidney disease where ciliary dysfunction is a primary factor. Researchers continue to examine these associations aiming to understand better the pathogenic mechanisms wherein EFCAB7 plays a role.