NKX2-5 Gene Overview

NKX2-5 Gene Overview

In mammalian cells the gene NKX2-5 is found on chromosome 5, more specifically on the long (q) arm of chromosome 5 at position 35.1. (Cytogenetic Location: 5q35.1)
Cytogenetic Location: 5q35.1
Transcription of the homeobox NKX2-5 gene into RNA and consequential translation, synthesizes a homeodomain protein.

Homeodomain proteins regulate gene expression and cell differentiation during early embryonic development, thus mutations in homeobox genes can cause developmental disorders.

The NKX2-5 protein is known as: "Homeobox protein NKX2-5" and is essential for cardiac development. In the fetal development of mice, disruption of NKX2-5 has proven to be lethal.

NKX2-5 is ~3,213 nucleotide bases long and is involved in biological processes that give an organism its shape. Disruption of NKX2-5 has proven to cause abnormal heart shape.

Cardiac expression of NKX2-5 continues throughout development and into adult life.

References:

  1. Myogenic and morpho.genetic defects in the heart tubes of murlne embryos lacking the homeo box gene Nkx2-5 - Ian Lyons, Linda M. Parsons, Lynne Hartley, Ruili Li, Jane E. Andrews, Lorraine Robb, and Richard P. Harvey.
  2. Congenital Heart Disease Caused by Mutations in the Transcription Factor NKX2-5 Jean-Jacques Schott, D. Woodrow Benson, Craig T. Basson, William Pease, G. Michael Silberbach, Jeffrey P. Moak, Barry J. Maron, Christine E. Seidman, J. G. Seidman.

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