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troponin T, cardiac muscle; TnTc; cardiac muscle troponin T; cTnT (TNNT2)

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: 1) defects in TNNT2 are the cause of a) familial hypertrophic cardiomyopathy type 2 b) dilated cardiomyopathy type 1D c) familial restrictive cardiomyopathy type 3 2) 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]

Related

troponin troponin T cardiac in serum/plasma

General

troponin-T

Properties

SIZE: entity length = 298 aa MW = 36 kD MOTIF: acetylation site SITE: N-TERMINUS EFFECTOR-BOUND: acetyl Ser phosphorylation site {S2}

Database Correlations

OMIM correlations MORBIDMAP 191045 UniProt P45379 Pfam PF00992 Entrez Gene 7139

References

  1. UniProt :accession P45379
  2. Sehnert AJ et al Cardiac troponin T is essential in sarcomere assembly and cardiac contractility. Nature Genetics 31:106-110, 2002 PMID: 11967535
  3. Familial hypertrophic cardiomyopathy mutation database http://www.angis.org.au/Databases/heart/heartbreak.html
  4. GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=TNNT2
  5. 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] PMID: 19940289 http://content.nejm.org/cgi/content/full/NEJMoa0805299