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Rabbit Anti-MEGF10 antibody
MEGF10 is a 1,140 amino acid protein encoded by the human gene MEGF10. MEGF10 belongs to the MEGF family and contains fifteen EGF-like domains and one EMI domain. The engulfment of dying cells is a specialized form of phagocytosis that is highly conserved across evolution and is mediated by the concerted action of several molecules. MEGF10 is an engulfment receptor protein that localizes to the plasma membrane in a punctuated pattern. The MEGF10 protein shares structural similarities with nematode engulfment receptor cell death abnormal-1 (CED-1). MEGF10 function is modulated by the ATP binding cassette transporter ABCA1, which is an ortholog to CED-7. It is expressed at the cell surface in clusters around cell corpses during engulfment, and during the engulfment of apoptotic thymocytes is recruited to the bottom of the forming phagocytic cup.
Function:
Involved in phagocytosis by macrophages of apoptotic cells. Cooperates with ABCA1 during engulfment. Destabilizes the oligomeric assemblies of the ABCA1 transporter. Plays a role in cell adhesion. Inhibits cell motility and cell proliferation in vitro. Promotes formation of large intracellular vacuoles.
Subunit:
Homopolymer (Probable). Interacts with GULP1 and ABCA1. Interacts with AP2M1. Does not interact with MEGF11.
Subcellular Location:
Cell membrane.
Post-translational modifications:
Phosphorylated on tyrosine residues.
Ubiquinated; mono- and polyubiquitinated forms are detected.
DISEASE:
Defects in MEGF10 are the cause of myopathy, early-onset, areflexia, respiratory distress, and dysphagia (EMARDD) [MIM:614399]. An autosomal recessive congenital myopathy characterized by onset at birth, or early in infancy, of respiratory distress caused by diaphragmatic weakness. Additional features are dysphagia resulting in poor feeding, failure to thrive, poor head control, facial weakness, cleft palate, contractures and scoliosis. Affected individuals become ventilator-dependent, and most require feeding by gastrostomy. The disorder results in severe muscle weakness and most patients never achieve walking. Death from respiratory failure in childhood occurs in about half of patients. Muscle biopsy shows myopathic changes, replacement of myofibers with fatty tissue, small and incompletely fused muscle fibers, and variation in fiber size. Short regions of sarcomeric disorganization with few or no mitochondria (minicores) have been observed in some cases.
Similarity:
Belongs to the MEGF family.
Contains 15 EGF-like domains.
Contains 1 EMI domain.
SWISS:
Q96KG7
Gene ID:
84466
Database links:
Entrez Gene: 84466 Human
SwissProt: Q96KG7 Human
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