Troponin C
Troponin C is a protein which is part of the troponin complex. It contains four calcium-binding EF hands, although different isoforms may have fewer than four functional calcium-binding subdomains. It is a component of thin filaments, along with actin and tropomyosin. It contains an N lobe and a C lobe. The C lobe serves a structural purpose and binds to the N domain of troponin I (TnI). The C lobe can bind either Ca2+ or Mg2+. The N lobe, which binds only Ca2+, is the regulatory lobe and binds to the C domain of troponin I after calcium binding.
Isoforms
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The tissue specific subtypes are:
- Slow troponin C, TNNC1 (3p21.1 Online Mendelian Inheritance in Man (OMIM): 191040)
- Fast troponin C, TNNC2 (20q12-q13.11, Online Mendelian Inheritance in Man (OMIM): 191039)
Mutations
Point mutations can occur in troponin C inducing alterations to Ca2+ and Mg2+ binding and protein structure,[1] leading to abnormalities in muscle contraction.[2][3] In cardiac muscle, they are related to dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM).
These known point mutations are:
See also
References
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External links
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