Synonyms: NBLST2,NBPhox,Neuroblastoma paired type homeobox protein,Neuroblastoma Phox,Paired like homeobox 2b,Paired mesoderm homeobox 2b,Paired mesoderm homeobox protein 2B,Paired-like homeobox 2B,PHOX 2B,PHOX 2B homeodomain protein,PHOX2B,PHOX2B homeodomain protein,PHX2B,PMX 2B,PMX2B
Background: The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription factor involved in the development of several major noradrenergic neuron populations and the determination of neurotransmitter phenotype. The gene product is linked to enhancement of second messenger-mediated activation of the dopamine beta-hydroylase, c-fos promoters and several enhancers, including cyclic amp-response element and serum-response element. Expansion of a 20 amino acid polyalanine tract in this protein by 5-13 aa has been associated with congenital central hypoventilation syndrome.