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Encyclopedia > PHOX2B
paired-like homeobox 2b
Identifiers
Symbol(s) PHOX2B PMX2B
Entrez 8929
OMIM 603851
RefSeq NM_003924
UniProt Q99453
Other data
Locus Chr. 4 p12

PHOX2B is a human gene located on chromosome 4. It codes for a homeodomain transcription factor. It is expressed exclusively in the nervous system, in most neurons that control the viscera (cardiovascular, digestive and respiratory systems). It is also required for their differentiation. Mutations in human PHOX2B cause a rare disease of the visceral nervous system (or dysautonomia): Ondine's curse or Congenital Central Hypoventilation Syndrome (or CCHS), which associates respiratory arrests during sleep, Hirschprung's disease (partial agenesis of the enteric nervous system) and tumors of the sympathetic ganglia. Hugo is a masculine name. ... The Entrez logo The Entrez Global Query Cross-Database Search System allows access to databases at the National Center for Biotechnology Information (NCBI) website. ... The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ... The National Center for Biotechnology Information (NCBI) is part of the US National Library of Medicine (NLM), which is a branch of the US National Institutes of Health. ... Swiss-Prot is a curated biological database of protein sequences created in 1986 by Amos Bairoch during his PhD and developed by the Swiss Institute of Bioinformatics and the European Bioinformatics Institute. ... In biology and evolutionary computation, a locus is a fixed position on a chromosome, such as the position of a gene. ... Chromosome 4 is one of the 23 pairs of chromosomes in humans. ... This stylistic schematic diagram shows a gene in relation to the double helix structure of DNA and to a chromosome (right). ... Chromosome 4 is one of the 23 pairs of chromosomes in humans. ... A homeobox is a stretch of DNA sequence found in genes involved in the regulation of the development (morphogenesis) of animals, fungi and plants. ... Ondines curse, or central alveolar hypoventilation syndrome, is a respiratory disorder that is fatal if untreated. ... CCHS is an abbreviation that may refer to: Carleton County Historical Society in New Brunswick, Canada Cathedral Catholic High School, proposed site for a relocated University of San Diego High School Cherry Creek High School in Greenwood Village, Colorado Christopher Columbus High School in Miami, Florida, United States Concord-Carlisle... The enteric nervous system (ENS) is an interdependent part of the autonomic nervous system. ... Autonomic nervous system innervation, showing the sympathetic and parasympathetic (craniosacral) systems, in red and blue, respectively Sympathetic ganglia are the ganglia of the sympathetic nervous system. ...



 

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