靶标:
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:
This gene encodes a protein that is a subunit of troponin, which is a regulatory complex located on the thin filament of the sarcomere. This complex regulates striated muscle contraction in response to fluctuations in intracellular calcium concentration. This complex is composed of three subunits: troponin C, which binds calcium, troponin T, which binds tropomyosin, and troponin I, which is an inhibitory subunit. This protein is the slow skeletal troponin T subunit. Mutations in this gene cause nemaline myopathy type 5, also known as Amish nemaline myopathy, a neuromuscular disorder characterized by muscle weakness and rod-shaped, or nemaline, inclusions in skeletal muscle fibers which affects infants, resulting in death due to respiratory insufficiency, usually in the second year. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Ju