MuSK, active

Background Information:

MuSK (Muscle Associated Receptor Tyrosine Kinase) is 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. 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. [provided by RefSeq, Oct 2009]

Target Class:

Kinase

Family:

RTK

Sub Family:

Protein Tyrosine

Protein Name:

MUSK

Protein Aliases:

Muscle-specific tyrosine-protein kinase receptor|MuSK|Muscle-specific kinase receptor

Accession Number:

NM_005592.1

UniProt Number:

O15146

Gene Name:

MUSK

Gene ID:

4593

Target Species:

Human