品质保障》

产品介绍background:
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].

Function:
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.

Subunit:
Interacts with LRP4; the interaction is direct and recruits AGRIN to the MUSK signaling complex composed at least of MUSK and LRP4 (By similarity). Binds to laminin.

Subcellular Location:
Secreted, extracellular space, extracellular matrix. Note=Synaptic basal lamina at the neuromuscular junction.

Tissue Specificity:
Detected on the aortic endothelium (at protein level).

Post-translational modifications:
Contains heparan sulfate chains as well as N-linked and O-linked oligosaccharides. 0-fucosylation of EGF repeat 4 of muscle AGRN by POFUT1 prevents its ability to form AChR clusters.

DISEASE:
Defects in AGRN are a cause of myasthenia, limb-girdle, familial (LGM) [MIM:254300]. 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.

Similarity:
Contains 4 EGF-like domains.
Contains 9 Kazal-like domains.
Contains 2 laminin EGF-like domains.
Contains 3 laminin G-like domains.
Contains 1 NtA (N-terminal agrin) domain.
Contains 1 SEA domain.