Gene Symbol | PHOX2B |
Entrez Gene ID | 8929 |
Full Name | paired like homeobox 2b |
Synonyms | NBLST2,NBPhox,PMX2B |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880 (3); {Neuroblastoma, susceptibility to, 2}, 613013 (3); Neuroblastoma with Hirschsprung disease, 613013 (3) |