PHOX2B Antibody – Rabbit Polyclonal

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. [provided by RefSeq, Jul 2008]

PHOX2B: Involved in the development of several major noradrenergic neuron populations, including the locus coeruleus. Transcription factor which could determine a neurotransmitter phenotype in vertebrates. Enhances second-messenger-mediated activation of the dopamine beta-hydrolase and c-fos promoters, and of several enhancers including cAMP-response element and serum- response element. Defects in PHOX2B are a cause of congenital central hypoventilation syndrome (CCHS); also known as congenital failure of autonomic control or Ondine curse. Most mutations consist of 5-10 alanine expansions in the poly-Ala region from amino acids 241-260. CCHS is a rare disorder characterized by abnormal control of respiration in the absence of neuromuscular or lung disease, or an identifiable brain stem lesion. A deficiency in autonomic control of respiration results in inadequate or negligible ventilatory and arousal responses to hypercapnia and hypoxemia. CCHS is frequently complicated with neurocristopathies such as Hirschsprung disease that occurs in about 16% of CCHS cases. Defects in PHOX2B are the cause of susceptibility to neuroblastoma type 2 (NBLST2). A common neoplasm of early childhood arising from embryonic cells that form the primitive neural crest and give rise to the adrenal medulla and the sympathetic nervous system. Belongs to the paired homeobox family.

Protein type: Transcription regulation; DNA-binding

Chromosomal Location of Human Ortholog: 4p12

Cellular Component: nuclear chromatin

Biological Process: hindbrain tangential cell migration; autonomic nervous system development; transcription, DNA-dependent; neuron migration; neurological control of breathing; enteric nervous system development; rhombencephalic reticular formation development; negative regulation of cell proliferation; negative regulation of neuron differentiation; sympathetic nervous system development; cell differentiation in hindbrain; parasympathetic nervous system development; glial cell differentiation; regulation of gene expression; efferent axon development in a lateral line nerve; positive regulation of transcription from RNA polymerase II promoter; positive regulation of neuron differentiation; inner ear development

Disease: Neuroblastoma, Susceptibility To, 2; Central Hypoventilation Syndrome, Congenital