Aliases for PHOX2A Gene
External Ids for PHOX2A Gene
Previous HGNC Symbols for PHOX2A Gene
Previous GeneCards Identifiers for PHOX2A Gene
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]
GeneCards Summary for PHOX2A Gene
PHOX2A (Paired Like Homeobox 2A) is a Protein Coding gene. Diseases associated with PHOX2A include Fibrosis Of Extraocular Muscles, Congenital, 2 and Tukel Syndrome. Among its related pathways are Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA polymerase II regulatory region sequence-specific DNA binding. An important paralog of this gene is PHOX2B.
UniProtKB/Swiss-Prot Summary for PHOX2A Gene
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.