PHOX2A

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. [provided by RefSeq]

Full Name

paired-like homeobox 2a

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.

Biological Process

Dopaminergic neuron differentiation1 PublicationIC:BHF-UCL
Enteric nervous system developmentManual Assertion Based On ExperimentIBA:GO_Central
Locus ceruleus developmentIEA:Ensembl
Midbrain developmentIEA:Ensembl
Noradrenergic neuron differentiation1 PublicationNAS:BHF-UCL
Oculomotor nerve formationIEA:Ensembl
Positive regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIDA:BHF-UCL
Regulation of respiratory gaseous exchangeIEA:Ensembl
Regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIDA:MGI
Somatic motor neuron differentiationIEA:Ensembl
Sympathetic nervous system developmentIEA:Ensembl
Trochlear nerve formationIEA:Ensembl

Cellular Location

Nucleus

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.