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Gene Review

TNNT3  -  troponin T type 3 (skeletal, fast)

Homo sapiens

Synonyms: AMCD2B, Beta-TnTF, DA2B, DKFZp779M2348, FSSV, ...
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Disease relevance of TNNT3


High impact information on TNNT3

  • Here we map two additional genes, the first encoding a ubiquitously expressed RNA, 2G7, and the second encoding the fast isoform of skeletal muscle troponin-T (TNNT3), in the 55 kb of DNA downstream of L23MRP [2].
  • Parallel expression of H19 and TNNT3 in different adult skeletal muscle types suggests that these genes may share an enhancer [2].
  • We have described a large Chinese DA family in which different individuals had phenotypes similar to DA1 or DA2B [3].
  • Here, we have isolated two independent human PAC genomic clones that contain either TNNI2 or TNNT3 and demonstrate by interphase FISH mapping that they are less than 100 kb apart in the genome [4].
  • We have previously shown that the fast skeletal muscle troponin I gene is located at 11p15.5 and noted potential close linkage with the fast skeletal muscle troponin T gene (TNNT3) [4].

Biological context of TNNT3


Analytical, diagnostic and therapeutic context of TNNT3

  • Specific primers designed from the 3' end of human TnTf cDNA were used to amplify an intronic region by polymerase chain reaction (PCR) [5].
  • Comparative sequence analysis reveals that the human beta TnTf shares a high level of sequence similarity in the coding region with other vertebrate TnTf and considerably reduced similarity with slow skeletal and cardiac TnT cDNAs [6].


  1. Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B. Sung, S.S., Brassington, A.M., Krakowiak, P.A., Carey, J.C., Jorde, L.B., Bamshad, M. Am. J. Hum. Genet. (2003) [Pubmed]
  2. An extended region of biallelic gene expression and rodent-human synteny downstream of the imprinted H19 gene on chromosome 11p15.5. Yuan, L., Qian, N., Tycko, B. Hum. Mol. Genet. (1996) [Pubmed]
  3. A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression. Jiang, M., Zhao, X., Han, W., Bian, C., Li, X., Wang, G., Ao, Y., Li, Y., Yi, D., Zhe, Y., Lo, W.H., Zhang, X., Li, J. Hum. Genet. (2006) [Pubmed]
  4. Structural characterization of the human fast skeletal muscle troponin I gene (TNNI2). Mullen, A.J., Barton, P.J. Gene (2000) [Pubmed]
  5. Assignment of the human fast skeletal troponin T gene (TNNT3) to chromosome 11p15.5: evidence for the presence of 11pter in a monochromosome 9 somatic cell hybrid in NIGMS mapping panel 2. Mao, C., Baumgartner, A.P., Jha, P.K., Huang, T.H., Sarkar, S. Genomics (1996) [Pubmed]
  6. Isolation and characterization of human fast skeletal beta troponin T cDNA: comparative sequence analysis of isoforms and insight into the evolution of members of a multigene family. Wu, Q.L., Jha, P.K., Raychowdhury, M.K., Du, Y., Leavis, P.C., Sarkar, S. DNA Cell Biol. (1994) [Pubmed]
  7. Regulation of troponin T expression during muscle development in sea bream Sparus auratus Linnaeus: the potential role of thyroid hormones. Campinho, M.A., Sweeney, G.E., Power, D.M. J. Exp. Biol. (2006) [Pubmed]
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