Products

Immunoprecipitation-Western Blot

Entrez GeneID

Gene Name

PHOX2A

Gene Alias

ARIX, CFEOM2, FEOM2, MGC52227, NCAM2, PMX2A

Gene Description

paired-like homeobox 2a

Omim ID

Gene Ontology

Gene 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

Other Designations

aristaless homeobox homolog|arix homeodomain protein