MUSK
Musculoskeletal System · Neuromuscular Junction Maintenance
What helps muscle cells group their signal receptors in the right place?
MUSK makes a receptor kinase involved in organizing acetylcholine receptors at the neuromuscular junction. Concentrating those receptors helps the muscle receive messages from the adjacent nerve ending.
- Common Gene Name
- muscle associated receptor tyrosine kinase
- NCBI Gene ID
- 4593
- Chromosome
- 9
Clinical Evidence Status
Established disease relationshipTumor or drug-label biomarker context
These labels describe available evidence about a gene. They do not classify your variant or recommend a treatment.
Answer Sources
Explore supporting evidence (3 records)
| Condition or drug | Evidence | Grade / status | Context | Source |
|---|---|---|---|---|
| congenital myasthenic syndrome 9 | ClinGen gene-disease validity | Definitive | Autosomal recessive | View source 2026-04-27 |
| Rozanolixizumab-noli (2) | FDA labeling biomarker | Label mentions biomarker; actionability not inferred | Neurology | View source |
| Nipocalimab-aahu (2) | FDA labeling biomarker | Label mentions biomarker; actionability not inferred | Neurology | View source |
Source snapshot: 2026-09-09. Consumer text updated: 2026-09-10. Source dates describe the cited records, not a new clinical review.
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