Troponin C1 gene is mapped on chromosome 3 which is predominantly expressed in cardiac and skeletal muscle and seen throughout during the first day ofdevelopment. TNNC1a gene is specifically detected in the ventricle and atrium portion of the heart yet TNNC1b gene is seen mostly in skeletal muscle.
Troponin C1 has the ability to rescue cardiomyocytes contractility which regulated in cell autonomous manner targeting exon 3 – intron 3 site which only target processing endogenous troponin C1 mRNA. Circular dichroism measurements exposed changes in the secondary structures of the TNNC1 mutants A8V, C84Y, and D145E.
Troponin C1 mutation is linked to the loss of contractility and myofibrillar organization inside ventricular cardiomyocytes thereby troponin C1 is needed for the function and structural integrity of the contractile mechanism in cardiomyocytes aiding to clarify potential means of troponin C mediated cardiomyopathy, a disorder typified by ventricular dilation and weakened systolic function resulting in congestive heart failure and arrhythmia.
Gene name: TNNC1
Protein name: Troponin C