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Troponin C

Protein family

Troponin C

Protein family

FieldValue
nameTroponin C
test ofTroponin
DiseasesDB
ICD10
MedlinePlus
eMedicine
OPS301
LOINC
Cardiac sarcomere structure, featuring troponin C
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

The tissue specific subtypes are:

  • Slow troponin C, TNNC1 (3p21.1 )
  • Fast troponin C, TNNC2 (20q12-q13.11, )

Mutations

Point mutations can occur in troponin C inducing alterations to Ca2+ and Mg2+ binding and protein structure, leading to abnormalities in muscle contraction. In cardiac muscle, they are related to dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM).

These known point mutations are:

  • A8V
  • D145E
  • A31S
  • C84Y
  • E134D
  • Y5H
  • I148V

References

References

  1. (April 2014). "Biochemical characterisation of Troponin C mutations causing hypertrophic and dilated cardiomyopathies". Journal of Muscle Research and Cell Motility.
  2. (July 2016). "Cardiac troponin structure-function and the influence of hypertrophic cardiomyopathy associated mutations on modulation of contractility". Archives of Biochemistry and Biophysics.
  3. (July 2009). "A functional and structural study of troponin C mutations related to hypertrophic cardiomyopathy". The Journal of Biological Chemistry.
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