troponin T3, fast skeletal type
Zuletzt aktualisiert 18. Aug 2020
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Der TNNT3 gene provides instructions for making one form of a protein called troponin T. The troponin T protein produced from the TNNT3 gene is found in skeletal muscles, which are the muscles used for movement. Troponin T is one of three proteins that make up the troponin complex in muscle cells. The troponin complex, along with calcium, helps regulate muscle tensing (contraction).
Normal function
Der TNNT3 gene provides instructions for making one form of a protein called troponin T. The troponin T protein produced from the TNNT3 gene is found in skeletal muscles, which are the muscles used for movement. Troponin T is one of three proteins that make up the troponin complex in muscle cells. The troponin complex, along with calcium, helps regulate muscle tensing (contraction).
The troponin complex is part of a structure called the sarcomere, which is the basic unit of muscle contraction. Sarcomeres contain thick and thin filaments. The overlapping thick and thin filaments attach (bind) to each other and release, which allows the filaments to move relative to one another so that muscles can contract.
When calcium levels are low, the troponin complex blocks the binding between the thick and thin filaments that is needed for muscle contraction. An increase in calcium levels causes structural changes in the troponin complex, which exposes the binding sites and allows the thick and thin filaments to interact, leading to muscle contraction.
Conditions referring to this gene or chromosome
Other names
AMCD2B
beta TnTF
beta-TnTF
DA2B
DKFZp779M2348
fast skeletal muscle troponin T
FSSV
fTnT
TNTF
troponin T type 3 (skeletal, fast)
troponin T, fast skeletal muscle
troponin T, fast skeletal muscle isoform 1
troponin T, fast skeletal muscle isoform 2
troponin T, fast skeletal muscle isoform 3
troponin T, fast skeletal muscle isoform 4
troponin-T3, skeletal, fast
Related patient information and medicines
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Weiterführende Lektüre und Referenzen
- troponin T3, fast skeletal type; MedlinePlus, National Library of Medicine.
- Beck AE, McMillin MJ, Gildersleeve HI, Kezele PR, Shively KM, Carey JC, Regnier M, Bamshad MJ. Spectrum of mutations that cause distal arthrogryposis types 1 and 2B. Am J Med Genet A. 2013 Mar;161A(3):550-5. doi: 10.1002/ajmg.a.35809. Epub 2013 Feb 7.
- Ochala J. Thin filament proteins mutations associated with skeletal myopathies: defective regulation of muscle contraction. J Mol Med (Berl). 2008 Nov;86(11):1197-204. doi: 10.1007/s00109-008-0380-9. Epub 2008 Jun 24.
- Toydemir RM, Bamshad MJ. Sheldon-Hall syndrome. Orphanet J Rare Dis. 2009 Mar 23;4:11. doi: 10.1186/1750-1172-4-11.
- Zhao N, Jiang M, Han W, Bian C, Li X, Huang F, Kong Q, Li J. A novel mutation in TNNT3 associated with Sheldon-Hall syndrome in a Chinese family with vertical talus. Eur J Med Genet. 2011 May-Jun;54(3):351-3. doi: 10.1016/j.ejmg.2011.03.002. Epub 2011 Mar 12.
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18. Aug 2020 | Neueste Version
1 Jun 2015 | Ursprünglich veröffentlicht
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