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PHOX2A 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.
Gene Name: | paired-like homeobox 2a |
Synonyms: | PHOX2A, Aristaless homeobox homolog, ARIX1 homeodomain protein, Arix homeodomain protein, CFEOM2, FEOM2, Paired-like homeobox 2a, PMX2A, ARIX |
Target Sequences: | NM_005169 NP_005160.2 O14813 |
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