= General Information =

= General Information =

=== Clinical Relevance ===

=== Clinical Relevance ===

In the case of NKX2.5, the protein works in conjunction with multiple other transcription factors during cardiogenesis <ref> Olson, E. N. (2006) Gene regulatory networks in the evolution and development of the heart. Science 313, 1922−1927. </ref>,<ref> Akazawa H, Komuro I. Cardiac transcription factor Csx/Nkx2–5: Its role in cardiac development and diseases. Pharmacol Ther. 2005;107:252–268. </ref>. Recently, research has been focused on NKX2.5 as mutations in the DNA binding residues, and structural support residues of the protein have been linked to congenital heart disease. Specifically, NKX2.5 mutations have been linked to etiologies involving both atrial and septal defects, deficient atrioventricular node conduction, and more complex mutations such as Tetralogy of Fallot and Hypoplastic Left Heart Syndrome <ref> Toko, H., Zhu, W., Takimoto, E., Shiojima, I., Hiroi, Y., Zou, Y., Oka, T., Akazawa, H., Mizukami, M., Sakamoto, M., Terasaki, F., Kitaura, Y., Takano, H., Nagai, T., Nagai, R., and Komuro, I. (2002) Csx/Nkx2−5 is required for homeostasis and survival of cardiac myocytes in the adult heart. J. Biol. Chem. 277, 24735−24743. </ref>,<ref> Schott, J., Benson, D., Basson, C., Pease, W., Silberbach, G., Moak, J., Maron, B., Seidman, C., and Seidman, J. (1998) Congenital heart disease caused by mutations in the transcription factor NKX2−5. Science 281, 108−111. </ref>,<ref> McElhinney, D. B., Geiger, E., Blinder, J., Benson, D. W., & Goldmuntz, E. (2003). NKX2.5 mutations in patients with congenital heart disease. Journal of the American College of Cardiology, 42(9), 1650–1655. https://doi.org/10.1016/j.jacc.2003.05.004 </ref>. These phenotypes are speculated to arise as a result of decreased

In the case of NKX2.5, the protein works in conjunction with multiple other transcription factors during cardiogenesis <ref> Olson, E. N. (2006) Gene regulatory networks in the evolution and development of the heart. Science 313, 1922−1927. </ref>,<ref> Akazawa H, Komuro I. Cardiac transcription factor Csx/Nkx2–5: Its role in cardiac development and diseases. Pharmacol Ther. 2005;107:252–268. </ref>. Recently, research has been focused on NKX2.5 as mutations in the DNA binding residues, and structural support residues of the protein have been linked to congenital heart disease. Specifically, NKX2.5 mutations have been linked to etiologies involving both atrial and septal defects, deficient atrioventricular node conduction, and more complex mutations such as Tetralogy of Fallot and Hypoplastic Left Heart Syndrome <ref> Toko, H., Zhu, W., Takimoto, E., Shiojima, I., Hiroi, Y., Zou, Y., Oka, T., Akazawa, H., Mizukami, M., Sakamoto, M., Terasaki, F., Kitaura, Y., Takano, H., Nagai, T., Nagai, R., and Komuro, I. (2002) Csx/Nkx2−5 is required for homeostasis and survival of cardiac myocytes in the adult heart. J. Biol. Chem. 277, 24735−24743. </ref>,<ref> Schott, J., Benson, D., Basson, C., Pease, W., Silberbach, G., Moak, J., Maron, B., Seidman, C., and Seidman, J. (1998) Congenital heart disease caused by mutations in the transcription factor NKX2−5. Science 281, 108−111. </ref>,<ref> McElhinney, D. B., Geiger, E., Blinder, J., Benson, D. W., & Goldmuntz, E. (2003). NKX2.5 mutations in patients with congenital heart disease. Journal of the American College of Cardiology, 42(9), 1650–1655. https://doi.org/10.1016/j.jacc.2003.05.004 </ref>. These phenotypes are speculated to arise as a result of decreased