基因名:
TNNT1
产品别名:
ANM; NEM5; STNT; TNT; TNTS; TNNT1; troponin T1, slow skeletal type; troponin T1, slow skeletal type; troponin T, slow skeletal muscle; slow skeletal muscle troponin T; troponin T type 1 (skeletal, slow); troponin-T1, skeletal, slow; 骨骼肌慢肌肌钙蛋白T; 骨骼肌慢肌肌钙蛋白T(TNNT1); 骨骼肌肌特异性肌钙蛋白T-SS;
背景信息:
Actin is a highly conserved protein that is expressed in all eukaryotic cells and interacts with Myosin to generate the force for diverse cellular movements, including cytokinesis, phagocytosis and muscle contraction. Troponin facilitates the interaction between Actin and Myosin by binding to calcium. Troponin is made up of at least two subunits, which are divergent in cardiac muscle, fast skeletal muscle and slow skeletal muscle. Structures of skeletal muscle Troponin are composed of Troponin C (the sensor), Troponin I (the regulator) and three Troponin T (the link to the muscle thin filament) proteins, one of which functions as a Tropomyosin-binding protein and is known as Troponin T-SS (Troponin T-Slow Skeletal). Defects in the gene encoding Troponin T-SS are the cause of nemaline myopathy type 5 (NEM5), a form of nemaline myopathy characterized by mild contractures of the shoulders and hips, tremors and respiratory problems that often lead to death. Troponin T-SS is expressed as three isoforms due to alternative splicing events.