TNNT3

The binding of Ca(2+) to the trimeric troponin complex initiates the process of muscle contraction. Increased Ca(2+) concentrations produce a conformational change in the troponin complex that is transmitted to tropomyosin dimers situated along actin filaments. The altered conformation permits increased interaction between a myosin head and an actin filament which, ultimately, produces a muscle contraction. The troponin complex has protein subunits C, I, and T. Subunit C binds Ca(2+) and subunit I binds to actin and inhibits actin-myosin interaction. Subunit T binds the troponin complex to the tropomyosin complex and is also required for Ca(2+)-mediated activation of actomyosin ATPase activity. There are 3 different troponin T genes that encode tissue-specific isoforms of subunit T for fast skeletal-, slow skeletal-, and cardiac-muscle. This gene encodes fast skeletal troponin T protein; also known as troponin T type 3. Alternative splicing results in multiple transcript variants encoding additional distinct troponin T type 3 isoforms. A developmentally regulated switch between fetal/neonatal and adult troponin T type 3 isoforms occurs. Additional splice variants have been described but their biological validity has not been established. Mutations in this gene may cause distal arthrogryposis multiplex congenita type 2B (DA2B).

TNNT3; troponin T type 3 (skeletal, fast); troponin T3, skeletal, fast; troponin T, fast skeletal muscle; AMCD2B; DA2B; DKFZp779M2348; FSSV; troponin T3; skeletal; fast; fast skeletal muscle; Beta TnTF; Beta-TnTF; Fast skeletal muscle troponin T; fTnT; TNNT 3; TNNT3_HUMAN; TnTf; Troponin T; Troponin T fast skeletal muscle; Troponin T type 3 (skeletal fast); Troponin T type 3; Troponin T3 skeletal fast; OTTHUMP00000014432; OTTHUMP00000014433; OTTHUMP00000014434; OTTHUMP00000014435; OTTHUMP00000014437; OTTHUMP00000014438; OTTHUMP00000069617; OTTHUMP00000069618; OTTHUMP00000069619; OTTHUMP00000194823; OTTHUMP;