PHOX2A
Function
May be involved in regulating the specificity of expression of the catecholamine biosynthetic genes. Acts as a transcription activator/factor. Could maintain the noradrenergic phenotype.
Involvement in disease
Fibrosis of extraocular muscles, congenital, 2
CFEOM2
A congenital ocular motility disorder marked by restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. It is clinically characterized by anchoring of the eyes in downward gaze, ptosis, and backward tilt of the head. Congenital fibrosis of extraocular muscles type 2 may result from the defective development of the oculomotor (nIII), trochlear (nIV) and abducens (nVI) cranial nerve nuclei.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the paired homeobox family.
Cellular localization
- Nucleus
Alternative names
ARIX, PMX2A, PHOX2A, Paired mesoderm homeobox protein 2A, ARIX1 homeodomain protein, Aristaless homeobox protein homolog, Paired-like homeobox 2A