Gene Symbol | MEGF10 |
Entrez Gene ID | 84466 |
Full Name | multiple EGF like domains 10 |
Synonyms | EMARDD |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. [provided by RefSeq, Apr 2012]. |
Disorder MIM: | |
Disorder Html: | Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399 (3); Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, 614399 (3) |