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翻訳と辞書　辞書検索 [ 開発暫定版 ] スポンサード リンク PHOX2B ： ウィキペディア英語版 PHOX2B Paired-like homeobox 2b (PHOX2B), also known as neuroblastoma Phox (NBPhox), is a protein that in humans is encoded by the ''PHOX2B'' gene located on chromosome 4.〔(【引用サイトリンク】 url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8929 )〕 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. == Pathology == Mutations in human ''PHOX2B'' cause a rare disease of the visceral nervous system (dysautonomia): Ondine's curse or Congenital Central Hypoventilation Syndrome (associated with respiratory arrests during sleep and, occasionally, wakefulness), Hirschprung's disease (partial agenesis of the enteric nervous system), ROHHAD, and tumours of the sympathetic ganglia. In most people, Exon 3 of the gene contains a sequence of 20 polyalanine repeats. An increase in the number of repeats is associated with congenital central hypoventilation syndrome. There may also be other pathogenic mutations further along the gene. 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「PHOX2B」の詳細全文を読む スポンサード リンク 翻訳と辞書 : 翻訳のためのインターネットリソース Copyright(C) kotoba.ne.jp 1997-2016. All Rights Reserved.