AGRN: Plays a central role in the formation and the maintenance of the neuromuscular junction (NMJ), the synapse between motor neuron and skeletal muscle. Ligand of the MUSK signaling complex that directly binds LRP4 in this complex and induces the phosphorylation of MUSK, the kinase of the complex. The activation of MUSK in myotubes induces the formation of NMJ by regulating different processes including the transcription of specific genes and the clustering of AChR in the postsynaptic membrane. Defects in AGRN are a cause of myasthenia, limb-girdle, familial (LGM). A congenital myasthenic syndrome characterized by a typical 'limb girdle' pattern of muscle weakness with small, simplified neuromuscular junctions but normal acetylcholine receptor and acetylcholinesterase function.
Protein type: Cell development/differentiation; Extracellular matrix; Secreted; Secreted, signal peptide; Cell adhesion
Cellular Component: basal lamina; basement membrane; cell junction; cell surface; cytoplasm; extracellular matrix; extracellular space; integral to membrane; membrane; plasma membrane; sarcolemma; synapse
Molecular Function: acetylcholine receptor regulator activity; ATPase inhibitor activity; calcium ion binding; heparan sulfate proteoglycan binding; protein binding; transforming growth factor beta binding
Biological Process: cell differentiation; multicellular organismal development; neuromuscular junction development; neurotransmitter receptor metabolic process; plasma membrane organization and biogenesis; positive regulation of filopodium formation; positive regulation of GTPase activity; positive regulation of neuron apoptosis; positive regulation of peptidyl-tyrosine phosphorylation; positive regulation of protein amino acid phosphorylation; positive regulation of protein binding; positive regulation of synaptic growth at neuromuscular junction; positive regulation of transcription from RNA polymerase II promoter; protein heterotetramerization; receptor clustering; regulation of GTPase activity; regulation of protein amino acid phosphorylation; regulation of synaptic growth at neuromuscular junction; synaptic transmission; synaptogenesis
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