Troponin C Explained

Troponin C
Test Of:Troponin

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

Troponin C, slow skeletal and cardiac muscles
Symbol:TNNC1
Hgncid:11943
Omim:191040
Refseq:NM_003280
Uniprot:P63316
Chromosome:3
Arm:p
Band:21.1
Troponin C, skeletal muscle
Symbol:TNNC2
Hgncid:11944
Omim:191039
Refseq:NP_003270.1
Uniprot:P02585
Chromosome:20
Arm:q
Band:13.12

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

Notes and References

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