Target intelligence / Profile preview

Muscle Specific Kinase (MuSK)

Target
MuSK
Molecular classification
Receptor tyrosine kinase
01

Overview

Muscle specific kinase (MuSK) is a receptor tyrosine kinase that plays an essential role in the formation, maintenance, and function of the neuromuscular junction (NMJ), which is the synapse between motor neurons and skeletal muscle fibers. It interacts with Agrin and LRP4 to initiate signaling cascades essential for NMJ development and maintenance. Autoantibodies against MuSK are found in some patients with myasthenia gravis, and mutations affecting the MUSK gene can cause congenital myasthenic syndromes.

02

Mechanism of action

Modulation of MuSK activity to enhance neuromuscular transmission.

03

Biological functions

Formation of neuromuscular junctionMaintenance of neuromuscular junctionAcetylcholine receptor clusteringSynaptic protein transcriptionPresynaptic differentiation
04

Disease associations

Myasthenia gravisCongenital myasthenic syndromes
05

Safety considerations

Potential for unintended effects on neuromuscular function
06

Biomarkers

MuSK autoantibodies (in myasthenia gravis)

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