Species Human Entrez 401 | Human Mouse Ensembl ENSG00000165462 | |
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Aliases PHOX2A, ARIX, CFEOM2, FEOM2, NCAM2, PMX2A, paired like homeobox 2a External IDs MGI: 106633 HomoloGene: 31296 GeneCards: PHOX2A | ||
Paired mesoderm homeobox protein 2A is a protein that in humans is encoded by the PHOX2A gene.
Contents
Function
The protein encoded by this gene contains a paired-like homeodomain most similar to that of the Drosophila aristaless gene product. This protein is expressed specifically in noradrenergic cell types. It regulates the expression of tyrosine hydroxylase and dopamine beta-hydroxylase, two catecholaminergic biosynthetic enzymes essential for the differentiation and maintenance of noradrenergic phenotype. Mutations in this gene have been associated with autosomal recessive congenital fibrosis of the extraocular muscles (CFEOM2).
Interactions
PHOX2A has been shown to interact with HAND2.
References
PHOX2A Wikipedia(Text) CC BY-SA