MEGF10 recombinant protein

Human MEGF10 Protein (His Tag)

Cat. Num. AAA2545199

• Gene Names: MEGF10; EMARDD
• Purity: > 90 % as determined by reducing SDS-PAGE.
• Synonyms: MEGF10; Human MEGF10 Protein (His Tag); KIAA1780; MEGF10 recombinant protein

• Host: HEK293 Cells
• Purity/Purification: > 90 % as determined by reducing SDS-PAGE.
• Form/Format: Lyophilized from sterile PBS, pH 7.4,5% , 5% Mannitol, 0.01 % Tween-80
• Sequence: Met 1-Gly857
• Sequence Length: 1140

• Application Notes: The recombinant human MEGF10 consists 843 amino acids and predicts a molecular mass of 90.2 kDa.
• Species: Human
• Tag: C-His
• Endotoxin: <1.0 EU per mug protein as determined by the LAL method.
• Reconstituted: We recommend that the vial be centrifuged to opening to bring the contents to the bottom. Do not mix by vortex. It is recommended that sterile water be added to the vial to prepare a stock solution of 0.13mg/mL. Concentration is measured by UV-Vis.
• Preparation and Storage: Lyophilized proteins are stable for up to 12 months when stored at -20 to -80°C. Reconstituted protein solution can be stored at 4-8°C for 2-7 days. Aliquots of reconstituted samples are stable at < -20°C for 3 months.; This product is provided as lyophilized powder which is shipped with ice packs.

SDS-PAGE

Related Product Information for MEGF10 recombinant protein

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.

NCBI and Uniprot Product Information

• NCBI GI #: 14192943
• NCBI GeneID: 84466
• NCBI Accession #: NP_115822.1
• NCBI GenBank Nucleotide #: NM_032446.2
• NCBI Official Full Name: multiple epidermal growth factor-like domains protein 10 isoform a
• NCBI Official Synonym Full Names: multiple EGF like domains 10
• NCBI Official Symbol: MEGF10
• NCBI Official Synonym Symbols: EMARDD
• NCBI Protein Information: multiple epidermal growth factor-like domains protein 10
• UniProt Protein Name: Multiple epidermal growth factor-like domains protein 10
• Protein Family: Multiple epidermal growth factor-like domains protein
• UniProt Gene Name: MEGF10
• UniProt Synonym Gene Names: KIAA1780; Multiple EGF-like domains protein 10

NCBI Description

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]

Uniprot Description

MEGF10: 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. Defects in MEGF10 are the cause of myopathy, early-onset, areflexia, respiratory distress, and dysphagia (EMARDD). 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. Belongs to the MEGF family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral

Chromosomal Location of Human Ortholog: 5q23.2

Molecular Function: complement component C1q binding; scavenger receptor activity

Biological Process: homotypic cell-cell adhesion; muscle cell development; regulation of muscle cell differentiation; regulation of skeletal muscle development; satellite cell activation; satellite cell differentiation; satellite cell proliferation

Disease: Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-onset