Agrin (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. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]

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

Chromosomal Location of Human Ortholog: 1p36.33

Cellular Component: basal lamina; cell junction; cytosol; extracellular matrix; extracellular region; Golgi lumen; integral component of membrane; lysosomal lumen; plasma membrane; synapse

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

Biological Process: clustering of voltage-gated sodium channels; cytoskeleton organization; extracellular matrix organization; G-protein coupled acetylcholine receptor signaling pathway; glycosaminoglycan biosynthetic process; glycosaminoglycan catabolic process; glycosaminoglycan metabolic process; positive regulation of filopodium formation; positive regulation of GTPase activity; positive regulation of synaptic growth at neuromuscular junction; positive regulation of transcription from RNA polymerase II promoter; receptor clustering; retinoid metabolic process; signal transduction; synapse organization

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