TNNC1
Troponin is a central regulatory protein of striated muscle contraction, and together with tropomyosin, is located on the actin filament. Troponin consists of 3 subunits: TnI, which is the inhibitor of actomyosin ATPase; TnT, which contains the binding site for tropomyosin; and TnC, the protein encoded by this gene. The binding of calcium to TnC abolishes the inhibitory action of TnI, thus allowing the interaction of actin with myosin, the hydrolysis of ATP, and the generation of tension. Mutations in this gene are associated with cardiomyopathy dilated type 1Z. [provided by RefSeq]
Full Name
troponin C type 1 (slow)
Function
Troponin is the central regulatory protein of striated muscle contraction. Tn consists of three components: Tn-I which is the inhibitor of actomyosin ATPase, Tn-T which contains the binding site for tropomyosin and Tn-C. The binding of calcium to Tn-C abolishes the inhibitory action of Tn on actin filaments.
Biological Process
Biological Process cardiac muscle contraction Source:CAFA1 Publication
Biological Process diaphragm contraction Source:Ensembl
Biological Process regulation of ATP-dependent activity Source:BHF-UCL
Biological Process regulation of muscle contraction Source:BHF-UCL1 Publication
Biological Process regulation of muscle filament sliding speed Source:BHF-UCL
Biological Process response to metal ion Source:Ensembl
Biological Process skeletal muscle contraction Source:GO_Central1 Publication
Biological Process transition between fast and slow fiber Source:Ensembl
Biological Process ventricular cardiac muscle tissue morphogenesis Source:BHF-UCL1 Publication
Cellular Location
cardiac Troponin complex
cytosol
troponin complex
Involvement in disease
Cardiomyopathy, dilated 1Z (CMD1Z):
A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
Cardiomyopathy, familial hypertrophic 13 (CMH13):
A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.
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Datasheet