The protein encoded by this gene contains a paired-like homeodomain most similar to that of the Drosophila aristaless gene product. The encoded protein plays a central role in development of the autonomic nervous system. It regulates the expression of tyrosine hydroxylase and dopamine beta-hydroxylase, two catecholaminergic biosynthetic enzymes essential for the differentiation and maintenance of the noradrenergic neurotransmitter phenotype. The encoded protein has also been shown to regulate transcription of the alpha3 nicotinic acetylcholine receptor gene. Mutations in this gene have been associated with autosomal recessive congenital fibrosis of the extraocular muscles.
PHOX2A; paired-like homeobox 2a; aristaless (Drosophila) homeobox, aristaless homeobox (Drosophila), fibrosis of extraocular muscles, congenital, 2, autosomal recessive , ARIX, FEOM2, paired like (aristaless) homeobox 2a; paired mesoderm homeobox protein 2A; CFEOM2; PMX2A; Aristaless homeobox (Drosophila) fibrosis of extraocular muscles congenital 2 autosomal recessive; Aristaless homeobox gene homolog (Drosophila); Aristaless homeobox homolog; Aristaless homeobox protein homolog; ARIX 1 homeodomain protein; ARIX; Arix homeodomain protein; ARIX1 homeodomain protein; CFEOM 2; FEOM 2; FEOM2; Fibrosis of extraocular muscles congenital 2 autosomal recessive; MGC52227; NCAM 2; NCAM2; Paired like (aristaless) Homeobox 2A; Paired like homeobox 2a; Paired mesoderm homeobox 2a; PHOX 2A; Phox2; PHX2A_HUMAN; Pmx 2a; Pmx2; OTTHUMP00000237214; sou; zgc:77364; soulless; aristaless homeobox