Rabbit Monoclonal Antibody to PHOX2B

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. [provided by RefSeq, Jul 2016]