Synonyms: Multiple EGF Like Domains 10,Multiple Epidermal Growth Factor-Like Domains Protein 10,MEGF10,Multiple epidermal growth factor-like domains protein 10,Multiple EGF-Like Domains Protein 10,Multiple EGF-Like-Domains 10,KIAA1780,EMARDD
Background: This gene encodes a member of the multiple epidermal growth factor-like domains protein family. The encoded protein plays a role in cell adhesion, motility and proliferation, and is a critical mediator of apoptotic cell phagocytosis as well as amyloid-beta peptide uptake in the brain. Expression of this gene may be associated with schizophrenia, and mutations in this gene are a cause of early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD) as well as congenital myopathy with minicores. Alternatively spliced transcript variants have been observed for this gene.