troponin T, cardiac muscle; TnTc; cardiac muscle troponin T; cTnT (TNNT2)
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Function
- tropomyosin binding subunit of troponin, the thin filament regulatory complex which confers Ca+2 sensitivity to striated muscle actomyosin ATPase activity
- essential in sarcomere assembly & cardiac contractility (zebrafish)
Structure
belongs to the troponin T family
Alternative splicing
named isoforms=10 additional isoforms seem to exist. experimental
Expression
- expressed in heart
- fetal heart shows a greater expression in the atrium than in the ventricle
- adult heart shows a greater expression in the ventricle than in the atrium
- isoform 6 predominates in normal adult heart
- isoforms 1, 7 & 8 are expressed in fetal heart
- isoform 7 is also expressed in failing adult heart
Pathology
- defects in TNNT2 are the cause of
- familial hypertrophic cardiomyopathy type 2
- dilated cardiomyopathy type 1D
- familial restrictive cardiomyopathy type 3
- even very low plasma levels of cardiac troponin T are associated with increased risk for heart failure & cardiovascular death among patients with stable heart disease[5]
More general terms
Additional terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/P45379.html
- ↑ Sehnert AJ et al Cardiac troponin T is essential in sarcomere assembly and cardiac contractility. Nature Genetics 31:106-110, 2002 PMID: https://www.ncbi.nlm.nih.gov/pubmed/11967535
- ↑ Familial hypertrophic cardiomyopathy mutation database http://www.angis.org.au/Databases/heart/heartbreak.html
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=TNNT2
- ↑ 5.0 5.1 Omland T et al for the the Prevention of Events with Angiotensin Converting Enzyme Inhibition (PEACE) Trial Investigators. A Sensitive Cardiac Troponin T Assay in Stable Coronary Artery Disease N Engl J Med. 2009 Nov 25. [Epub ahead of print] <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/19940289 <Internet> http://content.nejm.org/cgi/content/full/NEJMoa0805299
Database
- UniProt: http://www.uniprot.org/uniprot/P45379.html
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=7139
- OMIM: https://mirror.omim.org/entry/115195
- OMIM: https://mirror.omim.org/entry/191045
- OMIM: https://mirror.omim.org/entry/601494
- OMIM: https://mirror.omim.org/entry/612422