Fibrosis of extraocular muscles congenital 2 autosomal recessive
Paired like (aristaless) Homeobox 2A
Paired like homeobox 2a
Paired mesoderm homeobox 2a
Paired mesoderm homeobox protein 2A
Paired-like homeobox 2A
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
Defects in PHOX2A are the cause of congenital fibrosis of extraocular muscles type 2 (CFEOM2) [MIM:602078]. CFEOM encompasses several different inherited strabismus syndromes characterized by congenital restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. CFEOM is characterized clinically by anchoring of the eyes in downward gaze, ptosis, and backward tilt of the head. CFEOM2 may result from the aberrant development of the oculomotor (nIII), trochlear (nIV) and abducens (nVI) cranial nerve nuclei.
Belongs to the paired homeobox family. Contains 1 homeobox DNA-binding domain.