Scientific background: |
Troponin C1(TNNC1)(troponin C type 1 (slow)), also called TROPONIN C, SLOW-TWITCH SKELETAL
MUSCLE or TNC, is a protein that in humans is encoded by the TNNC1 gene. Using a
'monochromosomal' hybrid panel, the TNNC1 gene is mapped to chromosome 3; subsequent analysis
of the Genebridge 4 radiation hybrid panel localized the gene to 3p in a region consistent with the
earlier assignment. Circular dichroism measurements revealed changes in the secondary structures of
the TNNC1 mutants A8V, C84Y, and D145E. |
References: |
1. Bermingham, N., Hernandez, D., Balfour, A., Gilmour, F., Martin, J. E., Fisher, E. M.
C. Mapping TNNC1, the gene that encodes cardiac troponin I in the human and mouse. Genomics
30: 620-622, 1995.
2. Hoffmann, B., Schmidt-Traub, H., Perrot, A., Osterziel, K. J., Gessner, R. First mutation in cardiac
troponin C, L29Q, in a patient with hypertrophic cardiomyopathy. Hum. Mutat. 17: 524 only, 2001.
3. Landstrom, A. P., Parvatiyar, M. S., Pinto, J. R., Marquardt, M. L., Bos, J. M., Tester, D. J., Ommen,
S. R., Potter, J. D., Ackerman, M. J.Molecular and functional characterization of novel hypertrophic
cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C. J. Molec. Cell. Cardiol. 45:
281-288, 2008. |