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TPM1 tropomyosin 1

Gene ID: 7168, updated on 24-Mar-2023
Gene type: protein coding
Also known as: CMH3; TMSA; CMD1Y; LVNC9; C15orf13; HEL-S-265; HTM-alpha


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

A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.
GeneReviews: Not available
Dilated cardiomyopathy 1YSee labs
Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.
GeneReviews: Not available
Hypertrophic cardiomyopathy 3See labs
New gene functions in megakaryopoiesis and platelet formation.
GeneReviews: Not available
Primary dilated cardiomyopathySee labs

Copy number response

Copy number response

No evidence available (Last evaluated 2015-11-09)

ClinGen Genome Curation Page

No evidence available (Last evaluated 2015-11-09)

ClinGen Genome Curation Page

Genomic context

Chromosome: 15; NC_000015.10 (63042747..63071915)
Total number of exons:


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