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: Extracellular matrix; Cell development/differentiation; Secreted, signal peptide; Cell adhesion; Secreted
Cellular Component: extracellular matrix; extracellular space; cell surface; membrane; cytoplasm; plasma membrane; integral to membrane; basement membrane; basal lamina; synapse; cell junction; sarcolemma
Molecular Function: heparan sulfate proteoglycan binding; protein binding; transforming growth factor beta binding; ATPase inhibitor activity; acetylcholine receptor regulator activity; calcium ion binding
Biological Process: positive regulation of filopodium formation; regulation of GTPase activity; regulation of protein amino acid phosphorylation; positive regulation of protein binding; neurotransmitter receptor metabolic process; multicellular organismal development; positive regulation of synaptic growth at neuromuscular junction; receptor clustering; synaptic transmission; synaptogenesis; plasma membrane organization and biogenesis; positive regulation of neuron apoptosis; protein heterotetramerization; positive regulation of transcription from RNA polymerase II promoter; regulation of synaptic growth at neuromuscular junction; positive regulation of protein amino acid phosphorylation; regulation of receptor activity; cell differentiation; neuromuscular junction development
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