Troponin C

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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.

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Cardiac sarcomere structure, featuring troponin C
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Troponin

Isoforms

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Troponin C, slow skeletal and cardiac muscles
Identifiers
SymbolTNNC1
HGNC11943
OMIM191040
RefSeqNM_003280
UniProtP63316
Other data
LocusChr. 3 p21.1
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Quick Facts Identifiers, Symbol ...
Troponin C, skeletal muscle
Identifiers
SymbolTNNC2
HGNC11944
OMIM191039
RefSeqNP_003270.1
UniProtP02585
Other data
LocusChr. 20 q13.12
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The tissue specific subtypes are:

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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