Troponin C is a protein which is part of the

troponin image:Troponin Ribbon Diagram.png, 400px, Ribbon representation of the human cardiac troponin core complex (52 kDa core) in the calcium-saturated form. Blue = troponin C; green = troponin I; magenta = troponin T.; ; rendered with PyMOL Troponin, ...

complex. It contains four calcium-binding

EF hand The EF hand is a helix–loop–helix structural domain or ''motif'' found in a large family of calcium-binding proteins. The EF-hand motif contains a helix–loop–helix topology, much like the spread thumb and forefinger of the human hand, in ...

s, although different isoforms may have fewer than four functional calcium-binding subdomains. It is a component of thin filaments, along with

actin Actin is a protein family, family of Globular protein, globular multi-functional proteins that form microfilaments in the cytoskeleton, and the thin filaments in myofibril, muscle fibrils. It is found in essentially all Eukaryote, eukaryotic cel ...

and

tropomyosin Tropomyosin is a two-stranded alpha-helical, coiled coil protein found in actin-based cytoskeletons. Tropomyosin and the actin skeleton All organisms contain organelles that provide physical integrity to their cells. These type of organelles a ...

. 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 Dilated cardiomyopathy (DCM) is a condition in which the heart becomes enlarged and cannot pump blood effectively. Symptoms vary from none to feeling tired, leg swelling, and shortness of breath. It may also result in chest pain or fainting. Co ...

(DCM) and

hypertrophic cardiomyopathy Hypertrophic cardiomyopathy (HCM, or HOCM when obstructive) is a condition in which the heart becomes thickened without an obvious cause. The parts of the heart most commonly affected are the interventricular septum and the ventricles. This r ...

(HCM). These known point mutations are: * A8V * D145E * A31S * C84Y * E134D * Y5H * I148V

References

External links

* {{Calcium-binding proteins Troponin

Isoforms

Mutations

See also

References

External links