MEGF10

MEGF10, also known as Multiple EGF-like domains 10, is a protein encoded by the MEGF10 gene in humans. This gene is located on chromosome 5q14.3. MEGF10 is a member of the multiple epidermal growth factor (EGF)-like domains protein family and functions as a transmembrane receptor.

The MEGF10 protein is a large type I transmembrane protein characterized by the presence of numerous EGF-like repeats in its extracellular domain. These repeats are thought to mediate protein-protein interactions. Intracellularly, MEGF10 interacts with proteins involved in various signaling pathways.

MEGF10 plays a critical role in several biological processes, including the clearance of apoptotic cells (efferocytosis) and synaptic pruning. Efferocytosis is crucial for tissue homeostasis and the resolution of inflammation, while synaptic pruning is essential for proper brain development and function. MEGF10, along with other proteins such as MERTK, mediates the engulfment of apoptotic cells by phagocytes. In the brain, MEGF10 is involved in the elimination of unwanted synapses, a process vital for refining neural circuits.

Mutations in the MEGF10 gene have been associated with several human diseases. Notably, MEGF10 mutations are linked to early-onset myopathy, including Bethlem myopathy and Ullrich congenital muscular dystrophy. These myopathies are characterized by muscle weakness, joint contractures, and respiratory insufficiency. The exact mechanisms by which MEGF10 mutations lead to myopathy are still under investigation, but are believed to involve disruptions in muscle fiber maintenance and repair. Furthermore, MEGF10 has been implicated in neurodevelopmental disorders, though further research is needed to fully elucidate its role in these conditions.