SMG-1 Antibody – Mouse

The protein encoded by this gene 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. [provided by RefSeq, Jul 2008]

TNNT2: Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity. Heart. The fetal heart shows a greater expression in the atrium than in the ventricle, while the adult heart shows a greater expression in the ventricle than in the atrium. Isoform 6 predominates in normal adult heart. Isoforms 1, 7 and 8 are expressed in fetal heart. Isoform 7 is also expressed in failing adult heart. Belongs to the troponin T family. 11 isoforms of the human protein are produced by alternative splicing.

Protein type: Motor; Motility/polarity/chemotaxis

Chromosomal Location of Human Ortholog: 1q32

Cellular Component: sarcomere; troponin complex; cytosol; striated muscle thin filament

Molecular Function: troponin C binding; structural constituent of cytoskeleton; troponin I binding; ATPase activity; tropomyosin binding; actin binding

Biological Process: positive regulation of ATPase activity; regulation of muscle contraction; atrial cardiac muscle morphogenesis; metabolic process; ventricular cardiac muscle morphogenesis; sarcomere organization; response to calcium ion; negative regulation of ATPase activity; regulation of heart contraction; muscle filament sliding

Disease: Cardiomyopathy, Familial Restrictive, 3; Cardiomyopathy, Dilated, 1d; Cardiomyopathy, Familial Hypertrophic, 2