PHOX2A Antibody – Rabbit Polyclonal

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, Jul 2008]

PHOX2A: 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. Defects in PHOX2A are the cause of congenital fibrosis of extraocular muscles type 2 (CFEOM2). 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.

Protein type: Transcription factor; DNA-binding

Chromosomal Location of Human Ortholog: 11q13.2

Cellular Component: nuclear chromatin

Molecular Function: transcription factor activity

Biological Process: sympathetic nervous system development; regulation of respiratory gaseous exchange; trochlear nerve formation; transcription, DNA-dependent; oculomotor nerve formation; somatic motor neuron differentiation; midbrain development; positive regulation of transcription from RNA polymerase II promoter; locus ceruleus development

Disease: Fibrosis Of Extraocular Muscles, Congenital, 2