MUSK muscle associated receptor tyrosine kinase
Gene ID: 4593, updated on 11-Apr-2024Gene type: protein coding
Also known as: CMS9; FADS; FADS1
- See all available tests in GTR for this gene
- Go to complete Gene record for MUSK
- Go to Variation Viewer for MUSK variants
Summary
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.[provided by RefSeq, Oct 2009]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Congenital myasthenic syndrome 9 | See labs |
Exploring genome-wide - dietary heme iron intake interactions and the risk of type 2 diabetes. GeneReviews: Not available | |
Fetal akinesia deformation sequence 1 | See labs |
Genome-wide association study of lung function decline in adults with and without asthma. GeneReviews: Not available |
Genomic context
- Location:
- 9q31.3
- Sequence:
- Chromosome: 9; NC_000009.12 (110668791..110806558)
- Total number of exons:
- 17
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for MUSK variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- MUSK database
- MUSK homepage - Leiden Muscular Dystrophy pages
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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