GENETIC ENCYCLOPEDIA
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gene: TNNT3

id7140
symbolTNNT3
organismHomo sapiens
full nametroponin T3, fast skeletal type
summaryThe 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). [provided by RefSeq, Oct 2009]
variant-disease

NM_006757.4(TNNT3):c.636T>C (p.Ile212=) AND not specified

NM_006757.4(TNNT3):c.18-76A>G AND not provided

NM_006757.4(TNNT3):c.681+14C>A AND not specified

NM_006757.4(TNNT3):c.636T>C (p.Ile212=) AND Arthrogryposis multiplex congenita distal

NM_006757.4(TNNT3):c.480+10G>T AND Arthrogryposis multiplex congenita distal

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