Synonyms:DA2B2, ENTREZ:7140, HGNC:11950, MIM:600692, NM_001042780, NM_001042781, NM_001042782, NM_001297646, NM_001363561, NM_001367842, NM_001367843, NM_001367844, NM_001367845, NM_001367846, NM_001367847, NM_001367848, NM_001367849, NM_001367850, NM_001367851, NM_001367852, NM_006757, NP_001036245, NP_001036246, NP_001036247, NP_001284575, NP_001350490, NP_001354771, NP_001354772, NP_001354773, NP_001354774, NP_001354775, NP_001354776, NP_001354777, NP_001354778, NP_001354779, NP_001354780, NP_001354781, NP_006748, TNNT3, TNTF, XM_006718288, XM_006718294, XM_006718299, XM_006718300, XM_011520343, XM_017018205, XM_017018206, XM_017018207, XM_017018208, XM_017018209, XM_017018210, XM_017018211, XM_017018212, XM_017018213, XM_017018214, XM_017018215, XM_017018216, XM_017018217, XM_017018218, XM_017018219, XM_024448669, XM_024448670, XM_024448671, XM_024448672, XP_006718351, XP_006718357, XP_006718362, XP_006718363, XP_011518645, XP_016873694, XP_016873695, XP_016873696, XP_016873697, XP_016873698, XP_016873699, XP_016873700, XP_016873701, XP_016873702, XP_016873703, XP_016873704, XP_016873705, XP_016873706, XP_016873707, XP_016873708, XP_024304437, XP_024304438, XP_024304439, XP_024304440, beta-TnTF, troponin T3, fast skeletal type
Omim:OMIM:600692
Id:ENSG00000130595
Hgnc:HGNC:11950
Description:troponin T3, fast skeletal type
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). [provided by RefSeq, Oct 2009]
