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.
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).
^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.
PMID24744096.
S2CID1726747.
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.
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).
^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.
PMID24744096.
S2CID1726747.