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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 AIPL1 ： ウィキペディア英語版 AIPL1 Aryl-hydrocarbon-interacting protein-like 1 is a protein that in humans is encoded by the ''AIPL1'' gene.〔(【引用サイトリンク】 url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23746 )〕 == Function == Leber congenital amaurosis (LCA) accounts for at least 5% of all inherited retinal disease and is the most severe inherited retinopathy with the earliest age of onset. Individuals affected with LCA are diagnosed at birth or in the first few months of life with severely impaired vision or blindness, nystagmus and an abnormal or flat electroretinogram. The photoreceptor/pineal -expressed gene, AIPL1, encoding aryl-hydrocarbon interacting protein-like 1, was mapped within the LCA4 candidate region. The protein contains three tetratricopeptide motifs, consistent with nuclear transport or chaperone activity. AIPL1 mutations may cause approximately 20% of recessive LCA.〔 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「AIPL1」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.