PHOX2A : paired like homeobox 2A
Description
The PHOX2A (paired like homeobox 2A) is a protein-coding gene located on chromosome 11.
The PHOX2A gene provides instructions for creating a protein essential for the development and function of the nervous system. It plays a vital role in the formation of nerve cells (neurons) during early development, guiding their maturation and specialization. Research primarily conducted in animals reveals that PHOX2A is crucial for the development of the autonomic nervous system, which governs involuntary bodily functions like breathing, heart rate, and digestion. Additionally, it is involved in the development of certain cranial nerves, particularly those controlling eye movement (cranial nerves III and IV). These nerves originate from the brain and control the muscles surrounding the eyes, enabling accurate eye movement and positioning.
PHOX2A is also known as ARIX, CFEOM2, FEOM2, NCAM2, PMX2A.
Associated Diseases
- Fibrosis of extraocular muscles, congenital, 2
- Congenital fibrosis of extraocular muscles
- Congenital fibrosis of the extraocular muscles
