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Troponin C

From Wikipedia, the free encyclopedia
Protein family
Cardiac sarcomere structure, featuring troponin C
Medical diagnostic method
Troponin C
Test ofTroponin
Troponin

Troponin C is a protein which is part of thetroponin complex. It contains four calcium-bindingEF hands, although different isoforms may have fewer than four functional calcium-binding subdomains. It is a component ofthin filaments, along withactin andtropomyosin. It contains an N lobe and a C lobe. The C lobe serves a structural purpose and binds to the N domain oftroponin 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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Troponin C, slow skeletal and cardiac muscles
Identifiers
SymbolTNNC1
HGNC11943
OMIM191040
RefSeqNM_003280
UniProtP63316
Other data
LocusChr. 3p21.1
Search for
StructuresSwiss-model
DomainsInterPro
Troponin C, skeletal muscle
Identifiers
SymbolTNNC2
HGNC11944
OMIM191039
RefSeqNP_003270.1
UniProtP02585
Other data
LocusChr. 20q13.12
Search for
StructuresSwiss-model
DomainsInterPro

The tissue specific subtypes are:

Mutations

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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 todilated cardiomyopathy (DCM) andhypertrophic cardiomyopathy (HCM).

These known point mutations are:

See also

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References

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  1. ^Kalyva A, Parthenakis FI, Marketou ME, Kontaraki JE, Vardas PE (April 2014). "Biochemical characterisation of Troponin C mutations causing hypertrophic and dilated cardiomyopathies".Journal of Muscle Research and Cell Motility.35 (2):161–78.doi:10.1007/s10974-014-9382-0.PMID 24744096.S2CID 1726747.
  2. ^Cheng Y, Regnier M (July 2016)."Cardiac troponin structure-function and the influence of hypertrophic cardiomyopathy associated mutations on modulation of contractility".Archives of Biochemistry and Biophysics. Special Issue: Myofilament Modulation of Contraction.601:11–21.doi:10.1016/j.abb.2016.02.004.PMC 4899195.PMID 26851561.
  3. ^Pinto JR, Parvatiyar MS, Jones MA, Liang J, Ackerman MJ, Potter JD (July 2009)."A functional and structural study of troponin C mutations related to hypertrophic cardiomyopathy".The Journal of Biological Chemistry.284 (28):19090–100.doi:10.1074/jbc.M109.007021.PMC 2707221.PMID 19439414.

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