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Also known as: CMH2; RCM3; TnTC; cTnT; CMD1D; CMPD2; LVNC6
This gene encodes the cardiac isoform of troponin T. The encoded protein is a tropomyosin-binding subunit of the troponin complex, located on the filaments of striated muscles, and regulates muscle contraction in response to changes in intracellular calcium ion concentrations. Mutations in this gene are associated with familial hypertrophic cardiomyopathy and dilated cardiomyopathy.
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