TPM4 tropomyosin 4
Gene ID: 7171, updated on 19-Sep-2024Gene type: protein coding
Also known as: BDPLT25; HEL-S-108
- See all available tests in GTR for this gene
- Go to complete Gene record for TPM4
- Go to Variation Viewer for TPM4 variants
Summary
This gene encodes a member of the tropomyosin family of actin-binding proteins involved in the contractile system of striated and smooth muscles and the cytoskeleton of non-muscle cells. Tropomyosins are dimers of coiled-coil proteins that polymerize end-to-end along the major groove in most actin filaments. They provide stability to the filaments and regulate access of other actin-binding proteins. In muscle cells, they regulate muscle contraction by controlling the binding of myosin heads to the actin filament. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2009]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans. GeneReviews: Not available | |
| Bleeding disorder, platelet-type, 25 | not available |
| New gene functions in megakaryopoiesis and platelet formation. GeneReviews: Not available |
Genomic context
- Location:
- 19p13.12-p13.11
- Sequence:
- Chromosome: 19; NC_000019.10 (16067538..16103002)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TPM4 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
- Variation ViewerRelated Variants
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