Troponin T, slow skeletal muscle (TNNT1)

Troponin T, slow skeletal muscle (TNNT1) is a subunit of the troponin complex specifically expressed in the sarcomeres of slow-twitch skeletal muscle fibers[1][3]. It plays a crucial structural and regulatory role by anchoring the troponin complex to tropomyosin and the actin filament, thereby enabling calcium-regulated muscle contraction. Mutations in the TNNT1 gene disrupt the assembly or function of the troponin complex, abolishing proper muscle contraction, and cause severe, recessively inherited nemaline myopathy—most notably Amish nemaline myopathy (ANM)—which manifests as profound muscle weakness, atrophy of type I muscle fibers, and is often fatal in early infancy. TNNT1 is not considered a typical therapeutic target like receptors or enzymes, but its essential role in muscle physiology makes it a critical protein in skeletal muscle biology[1][2][3][4].

Other names

Slow skeletal muscle troponin TTnTssTnTAmish nemaline myopathy proteinANMSTNTTNTTNTSNEM5troponin T1slow skeletalnemaline myopathy type 5troponin T type 1 (skeletal, slow)troponin-T1skeletal, slowFLJ98147MGC104241