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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 CRB1 ： ウィキペディア英語版 CRB1 Crumbs homolog 1 is a protein that in humans is encoded by the ''CRB1'' gene.〔(【引用サイトリンク】 url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23418 )〕 This gene encodes a protein which is similar to the Drosophila ''crumbs'' protein and localizes to the inner segment of mammalian photoreceptors. In Drosophila crumbs localizes to the stalk of the fly photoreceptor and may be a component of the molecular scaffold that controls proper development of polarity in the eye. Mutations in this gene are associated with a severe form of retinitis pigmentosa, RP12, and with Leber congenital amaurosis. Alternatively spliced transcript variants have been observed but their full-length nature has yet to be determined.〔 One small study suggests that mutations in this gene are associated with keratoconus in patients that already have Leber's congenital amaurosis. ==References== 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「CRB1」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.