Encyclopedia
Troponin T3, fast skeletal type: The TNNT3 gene provides instructions for making one form of a protein called troponin T.
- genes
1. Normal Function
The 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.
2. Health Conditions Related to Genetic Changes
2.1. Sheldon-Hall syndrome
At least three TNNT3 gene mutations have been identified in people with Sheldon-Hall syndrome. This disorder affects muscle and skeletal development before birth and is characterized by joint deformities (contractures) that restrict movement in the hands and feet. The TNNT3 gene mutations that cause Sheldon-Hall syndrome may prevent the troponin complex from blocking thick and thin filament binding to control muscle contractions, resulting in the contractures and other muscle and skeletal abnormalities associated with Sheldon-Hall syndrome.
3. Other Names for This Gene
- 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
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/tnnt3
References
- Beck AE, McMillin MJ, Gildersleeve HI, Kezele PR, Shively KM, Carey JC,Regnier M, Bamshad MJ. Spectrum of mutations that cause distal arthrogryposistypes 1 and 2B. Am J Med Genet A. 2013 Mar;161A(3):550-5. doi:10.1002/ajmg.a.35809.
- Ochala J. Thin filament proteins mutations associated with skeletalmyopathies: defective regulation of muscle contraction. J Mol Med (Berl). 2008Nov;86(11):1197-204. doi: 10.1007/s00109-008-0380-9.
- Toydemir RM, Bamshad MJ. Sheldon-Hall syndrome. Orphanet J Rare Dis. 2009 Mar 23;4:11. doi: 10.1186/1750-1172-4-11. Review.
- 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.
