PHOX2B

The protein encoded by the gene PHOX2B, known as paired like homeobox 2B, is a member of the paired family of homeobox proteins. It functions as a transcription factor, playing a crucial role in the development of noradrenergic neuron populations and neurotransmitter phenotype determination. PHOX2B is also known as CCHS, PMX2B, NBLST2, and NBPhox. It is involved in the regulation of dopamine beta-hydroylase, c-fos promoters, and several enhancers. The protein's function is linked to the development of the autonomic nervous system, brainstem, and enteric nervous system. Mutations in PHOX2B are associated with congenital central hypoventilation syndrome (CCHS) and neuroblastoma. Research on PHOX2B has led to the identification of potential therapeutic targets for these diseases, with ongoing drug development efforts focusing on restoring normal gene expression and modulating signaling pathways.