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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. Note: This description may include information from UniProtKB.
Protein type: DNA-binding; Transcription regulation
Chromosomal Location of Human Ortholog: 4p13
Cellular Component: nuclear chromatin
Biological Process: autonomic nervous system development; cell differentiation in hindbrain; efferent axon development in a lateral line nerve; enteric nervous system development; glial cell differentiation; hindbrain tangential cell migration; inner ear development; negative regulation of cell proliferation; negative regulation of neuron differentiation; neuron migration; parasympathetic nervous system development; positive regulation of neuron differentiation; positive regulation of transcription from RNA polymerase II promoter; regulation of gene expression; regulation of respiratory gaseous exchange by neurological system process; rhombencephalic reticular formation development; sympathetic nervous system development; transcription from RNA polymerase II promoter
Disease: Central Hypoventilation Syndrome, Congenital; Neuroblastoma, Susceptibility To, 2
Reference #:  Q99453 (UniProtKB)
Alt. Names/Synonyms: NBLST2; NBPhox; neuroblastoma paired-type homeobox protein; Neuroblastoma Phox; paired mesoderm homeobox 2b; Paired mesoderm homeobox protein 2B; Paired-like homeobox 2B; PHOX2B; PHOX2B homeodomain protein; PHX2B; PMX2B
Gene Symbols: PHOX2B
Molecular weight: 31,621 Da
Basal Isoelectric point: 9.02  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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