AGRN Antibody – Rabbit Polyclonal

This gene encodes one of several proteins that are critical in the development of the neuromuscular junction (NMJ), as identified in mouse knock-out studies. The encoded protein contains several laminin G, Kazal type serine protease inhibitor, and epidermal growth factor domains. Additional post-translational modifications occur to add glycosaminoglycans and disulfide bonds. In one family with congenital myasthenic syndrome affecting limb-girdle muscles, a mutation in this gene was found. [provided by RefSeq, Aug 2011]

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: Secreted; Cell adhesion; Extracellular matrix; Cell development/differentiation; Secreted, signal peptide

Chromosomal Location of Human Ortholog: 1p36.33

Cellular Component: extracellular matrix; lysosomal lumen; extracellular space; cell surface; Golgi lumen; cytoplasm; integral to membrane; extracellular region; plasma membrane; synapse; basal lamina; cell junction

Molecular Function: heparan sulfate proteoglycan binding; protein binding; structural constituent of cytoskeleton; acetylcholine receptor regulator activity; laminin binding; calcium ion binding; sialic acid binding

Biological Process: positive regulation of filopodium formation; phototransduction, visible light; axon guidance; clustering of voltage-gated sodium channels; extracellular matrix organization and biogenesis; acetylcholine receptor signaling, muscarinic pathway; glycosaminoglycan metabolic process; neurotransmitter receptor metabolic process; pathogenesis; positive regulation of synaptic growth at neuromuscular junction; signal transduction; receptor clustering; chondroitin sulfate metabolic process; glycosaminoglycan biosynthetic process; glycosaminoglycan catabolic process; plasma membrane organization and biogenesis; positive regulation of neuron apoptosis; carbohydrate metabolic process; synapse organization and biogenesis; positive regulation of transcription from RNA polymerase II promoter; regulation of receptor activity; retinoid metabolic process; neuromuscular junction development

Disease: Myasthenic Syndrome, Congenital, With Pre- And Postsynaptic Defects