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TNNT2 / CTNT is the tropomyosin-binding subunit of the troponin complex, which is located on the thin filament of striated muscles and regulates muscle contraction in response to alterations in intracellular calcium ion concentration. Mutations in this gene have been associated with familial hypertrophic cardiomyopathy as well as with dilated cardiomyopathy. Transcripts for this gene undergo alternative splicing that results in many tissue-specific isoforms, however, the full-length nature of some of these variants has not yet been determined.
Gene Name: | troponin T type 2 (cardiac) |
Synonyms: | TNNT2, Cardiomyopathy, hypertrophic 2, CMPD2, CMD1D, CMH2, Cardiac muscle troponin T, Cardiac Troponin T, LVNC6, TnTC, Troponin T type 2 (cardiac), Troponin T, cardiac muscle, Troponin T2, cardiac, CTnT, RCM3 |
Target Sequences: | NM_000364 NP_000355.2 P45379 |
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