The TPM1 gene homepage
| General information |
| Gene symbol |
TPM1 |
| Gene name |
tropomyosin 1 (alpha) |
| Chromosome |
15 |
| Chromosomal band |
q22.1 |
| Imprinted |
- |
| Genomic reference |
NG_007557.1 |
| Transcript reference |
NM_001018005.1 |
| Associated with diseases |
WD |
| Citation reference(s) |
Pan M et al, 2011
Zhang T et al, 2010 |
| Refseq URL |
Coding DNA reference sequence |
| Curators (0) |
- |
| Total number of public variants reported |
36 |
| Unique public DNA variants reported |
19 |
| Individuals with public variants |
0 |
| Hidden variants |
- |
| Notes |
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. [provided by RefSeq, Jul 2008]
Also known as: CMH3; TMSA; CMD1Y; C15orf13; HTM-alpha |
| Date created |
May 04, 2013 |
Active transcripts
| Copyright & disclaimer |
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