TPM3 tropomyosin 3
Gene ID: 7170, updated on 10-Oct-2024Gene type: protein coding
Also known as: TM3; TM5; TRK; CFTD; NEM1; TM-5; TM30; CAPM1; CMYO4A; CMYO4B; CMYP4A; CMYP4B; TM30nm; TPM3nu; TPMsk3; hscp30; HEL-189; HEL-S-82p; OK/SW-cl.5
- See all available tests in GTR for this gene
- Go to complete Gene record for TPM3
- Go to Variation Viewer for TPM3 variants
Summary
This gene encodes a member of the tropomyosin family of actin-binding proteins. Tropomyosins are dimers of coiled-coil proteins that provide stability to actin filaments and regulate access of other actin-binding proteins. Mutations in this gene result in autosomal dominant nemaline myopathy and other muscle disorders. This locus is involved in translocations with other loci, including anaplastic lymphoma receptor tyrosine kinase (ALK) and neurotrophic tyrosine kinase receptor type 1 (NTRK1), which result in the formation of fusion proteins that act as oncogenes. There are numerous pseudogenes for this gene on different chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Congenital myopathy 4A, autosomal dominant | See labs |
| Congenital myopathy 4B, autosomal recessive | See labs |
| Congenital myopathy with fiber type disproportion MedGen: C0546264GeneReviews: Not available | See labs |
Genomic context
- Location:
- 1q21.3
- Sequence:
- Chromosome: 1; NC_000001.11 (154155308..154192100, complement)
- Total number of exons:
- 16
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TPM3 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
- 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
- TPM3 homepage - Leiden Muscular Dystrophy pages
- Variation ViewerRelated Variants
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