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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Multiple EGF-like domains protein 10; multiple EGF-like-domains 10; Multiple epidermal growth factor-like domains protein 10
基因别名: EMARDD; KIAA1780; MEGF10
UniProt ID: (Human) Q96KG7
Entrez Gene ID: (Human) 84466