Rabbit anti-Human MUSK Polyclonal Antibody

Uniprot Id

O15146

Target Species

Human

Target Name

MUSK

Target Full Name

Muscle, skeletal receptor tyrosine-protein kinase

Target Function

Receptor tyrosine kinase which plays a central role in the formation and the maintenance of the neuromuscular junction (NMJ), the synapse between the motor neuron and the skeletal muscle. Recruitment of AGRIN by LRP4 to the MUSK signaling complex induces phosphorylation and activation of MUSK, the kinase of the complex. The activation of MUSK in myotubes regulates the formation of NMJs through the regulation of different processes including the specific expression of genes in subsynaptic nuclei, the reorganization of the actin cytoskeleton and the clustering of the acetylcholine receptors (AChR) in the postsynaptic membrane. May regulate AChR phosphorylation and clustering through activation of ABL1 and Src family kinases which in turn regulate MUSK. DVL1 and PAK1 that form a ternary complex with MUSK are also important for MUSK-dependent regulation of AChR clustering. May positively regulate Rho family GTPases through FNTA. Mediates the phosphorylation of FNTA which promotes prenylation, recruitment to membranes and activation of RAC1 a regulator of the actin cytoskeleton and of gene expression. Other effectors of the MUSK signaling include DNAJA3 which functions downstream of MUSK. May also play a role within the central nervous system by mediating cholinergic responses, synaptic plasticity and memory formation.

Target Involvement

Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9); Fetal akinesia deformation sequence (FADS)

Target Subcellular Location

Cell junction, synapse, postsynaptic cell membrane; Single-pass type I membrane protein.

Target Protein Families

Protein kinase superfamily, Tyr protein kinase family

Target Research Area

Signal Transduction

Target Synonyms

MUSK; Muscle, skeletal receptor tyrosine-protein kinase; Muscle-specific tyrosine-protein kinase receptor; MuSK; Muscle-specific kinase receptor

Target Background

This gene encodes a muscle-specific tyrosine kinase receptor. The encoded protein may play a role in clustering of the acetylcholine receptor in the postsynaptic neuromuscular junction. Mutations in this gene have been associated with congenital myasthenic syndrome. Alternatively spliced transcript variants have been described.