Homeobox protein Nkx-2.5

Homeobox protein Nkx-2.5 is a protein that in humans is encoded by the NKX2-5 gene. This protein is a member of the NKX family of homeodomain-containing transcription factors, which play a crucial role in heart development and the maintenance of its normal function.

Function

The NKX2-5 protein is a transcription factor, which means it helps control the activity of certain genes. It is involved in the development of the heart and its structures, including the atria, ventricles, and conduction system. The protein is also involved in the development of the spleen and thyroid gland.

Clinical significance

Mutations in the NKX2-5 gene are associated with congenital heart disease, including atrial septal defect, ventricular septal defect, tetralogy of Fallot, and hypoplastic left heart syndrome. These mutations can also cause thyroid dysgenesis, a condition that affects the development of the thyroid gland.

Structure

The NKX2-5 protein contains a homeobox domain, which is a sequence of about 60 amino acids that can bind to specific regions of DNA. This binding allows the protein to control the activity of other genes.

See also

• Homeobox
• NKX family
• Transcription factor
• Congenital heart disease

References

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