TPM1 tropomyosin 1
Gene ID: 7168, updated on 7-Apr-2024Gene type: protein coding
Also known as: CMH3; TMSA; CMD1Y; LVNC9; C15orf13; HEL-S-265; HTM-alpha
- See all available tests in GTR for this gene
- Go to complete Gene record for TPM1
- Go to Variation Viewer for TPM1 variants
Summary
This gene is a member of the tropomyosin family of highly conserved, widely distributed actin-binding proteins involved in the contractile system of striated and smooth muscles and the cytoskeleton of non-muscle cells. Tropomyosin is composed of two alpha-helical chains arranged as a coiled-coil. It is polymerized end to end along the two grooves of actin filaments and provides stability to the filaments. The encoded protein is one type of alpha helical chain that forms the predominant tropomyosin of striated muscle, where it also functions in association with the troponin complex to regulate the calcium-dependent interaction of actin and myosin during muscle contraction. In smooth muscle and non-muscle cells, alternatively spliced transcript variants encoding a range of isoforms have been described. Mutations in this gene are associated with type 3 familial hypertrophic cardiomyopathy and dilated cardiomyopathy 1Y. [provided by RefSeq, Jun 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. GeneReviews: Not available | |
| Dilated cardiomyopathy 1Y | See labs |
| Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. GeneReviews: Not available | |
| Hypertrophic cardiomyopathy 3 | See labs |
| New gene functions in megakaryopoiesis and platelet formation. GeneReviews: Not available | |
| Primary dilated cardiomyopathy MedGen: C0007193GeneReviews: Dilated Cardiomyopathy Overview | See labs |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2015-11-09) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2015-11-09) ClinGen Genome Curation Page |
Genomic context
- Location:
- 15q22.2
- Sequence:
- Chromosome: 15; NC_000015.10 (63042747..63071915)
- Total number of exons:
- 15
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TPM1 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
- TPM1 homepage - Leiden Muscular Dystrophy pages
- Variation ViewerRelated Variants
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