Aliases for MEGF10 Gene
External Ids for MEGF10 Gene
Previous GeneCards Identifiers for MEGF10 Gene
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]
GeneCards Summary for MEGF10 Gene
MEGF10 (Multiple EGF-Like-Domains 10) is a Protein Coding gene. Diseases associated with MEGF10 include myopathy, areflexia, respiratory distress, and dysphagia, early-onset and neuronopathy, distal hereditary motor, type vi. GO annotations related to this gene include endopeptidase inhibitor activity. An important paralog of this gene is MEGF11.
UniProtKB/Swiss-Prot for MEGF10 Gene
Membrane receptor involved in phagocytosis by macrophages of apoptotic cells. Cooperates with ABCA1 within the process of engulfment. Promotes the formation of large intracellular vacuoles and may be responsible for the uptake of amyloid-beta peptides. May also function in the mosaic spacing of specific neuron subtypes in the retina through homotypic retinal neuron repulsion. Mosaics provide a mechanism to distribute each cell type evenly across the retina, ensuring that all parts of the visual field have access to a full set of processing elements. May play role in cell adhesion and motility. Is also an essential factor in the regulation of myogenesis. Controls the balance between skeletal muscle satellite cells proliferation and differentiation problably through regulation of the notch signaling pathway.