PHOX2A

PHOX2A is a gene that encodes a member of the paired-like homeodomain transcription factor family. This protein is involved in the development of the autonomic nervous system, specifically the neural crest and central nervous system.

Function

The PHOX2A gene provides instructions for making a protein that is involved in the development of certain nerve cells (neurons) in the brain and spinal cord (central nervous system). This protein is a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. Researchers believe that the PHOX2A protein plays a critical role in the formation and maintenance of a group of neurons known as the autonomic nervous system. This system controls involuntary body functions such as heart rate, blood pressure, and digestion.

Clinical significance

Mutations in the PHOX2A gene have been associated with several medical conditions. These include congenital central hypoventilation syndrome (CCHS), a disorder that affects automatic control of breathing, and neuroblastoma, a type of cancer that forms in certain types of nerve tissue.

Genetics

The PHOX2A gene is located on the short (p) arm of chromosome 11 at position 13.3. More precisely, the PHOX2A gene is located from base pair 32,878,806 to base pair 32,883,674 on chromosome 11.

See also

• Homeobox
• PHOX2B

References

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External links

• [1] NCBI Gene
• [2] Genetics Home Reference

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