Mar 30, 2025 · MUSK (Muscle Associated Receptor Tyrosine Kinase) is a Protein Coding gene. Diseases associated with MUSK include Fetal Akinesia Deformation Sequence 1 and Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency .

Mar 28, 2025 · Probable muscle-intrinsic activator of MUSK that plays an essential role in neuromuscular synaptogenesis. Acts in aneural activation of MUSK and subsequent acetylcholine receptor (AchR) clustering in myotubes. Induces autophosphorylation of MUSK. DOK7_HUMAN,Q18PE1

Mar 30, 2025 · 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.

Mar 30, 2025 · Complete information for FNTA gene (Protein Coding), Farnesyltransferase, CAAX Box, Subunit Alpha, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium

Showing 25 of 4,668 results for MUSK Search Time: 0 ms in Aliases & Descriptions Drugs & Compounds Disorders Text-Mined Disorders Domains Expression in Human Tissues Function Genomics Localization Orthologs Paralogs Pathways Phenotypes Proteins Publications Summaries Transcripts Variants in category Protein Coding RNA Gene Functional Element ...

Mar 30, 2025 · This gene, a muscle member of the immunoglobulin gene superfamily, encodes myosin light chain kinase which is a calcium/calmodulin dependent enzyme. This kinase phosphorylates myosin regulatory light chains to facilitate myosin interaction with actin filaments to produce contractile activity.

Mar 30, 2025 · The protein encoded by this gene is a transcriptional repressor capable of binding an E-box element either as a homodimer or as a heterodimer with E2A in vitro. The encoded protein also forms heterodimers with E2A proteins in vivo.

Complete information for lnc-MUSK-7 gene (RNA Gene), , including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium

Mar 30, 2025 · The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and …

Mar 30, 2025 · Mice lacking this gene exhibit impaired development of organs, musculature and the skeleton, including absent and abnormally developed teeth, and neonatal lethality. Mutations in the human gene are associated with selective tooth agenesis-3.