TNNT2, EnkiLife, AMRe21387

Cell localization: Cytoplasm. The protein encoded by this gene isThe tropomyosin-binding subunit ofThe troponin complex, which is located onThe 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. [provided by RefSeq, Jul 2008],