PHOX2A, Official Symbol PHOX2Aprovided by HGNC Official Full Name paired like homeobox 2Aprovided by HGNC Primary source HGNC:HGNC:691 See related Ensembl:ENSG00000165462 MIM:602753; AllianceGenome:HGNC:691 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ARIX; FEOM2; NCAM2; PMX2A; CFEOM2 Summary 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] Expression Biased expression in adrenal (RPKM 6.0) and appendix (RPKM 0.4) See more Orthologs mouse all