翻訳と辞書 Words near each other ・ Multiple sclerosis signs and symptoms ・ Multiple Sclerosis Society ・ Multiple Sclerosis Society of Canada ・ Multiple Sclerosis Society of Great Britain ・ Multiple Sclerosis Trust ・ Multiple sequence alignment ・ Multiple sexual ornaments ・ Multiple Sidosis ・ Multiple signal classification ・ Multiple single-level ・ Multiple Sleep Latency Test ・ Multiple Species Conservation Program ・ Multiple sub-Nyquist sampling encoding ・ Multiple subpial transection ・ Multiple Subscriber Number ・ Multiple sulfatase deficiency ・ Multiple system atrophy ・ Multiple Threat Alert Center ・ Multiple time dimensions ・ Multiple trace theory ・ Multiple treatments ・ Multiple unit ・ Multiple units of Ireland ・ Multiple use ・ Multiple working ・ Multiple zeta function ・ Multiple-alarm fire ・ Multiple-camera setup ・ Multiple-classification ripple-down rules ・ Multiple-conclusion logic Dictionary Lists mini英和辞書 mini和英辞書 Webster 1913 Latin-English FOLDOC Wikipedia English ウィキペディア

翻訳と辞書　辞書検索 [ 開発暫定版 ] スポンサード リンク Multiple sulfatase deficiency ： ウィキペディア英語版 Multiple sulfatase deficiency Multiple sulfatase deficiency (also known as "Austin disease,"〔 and "Mucosulfatidosis") is a very rare autosomal recessive〔James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. ISBN 0-7216-2921-0.〕 lysosomal storage disease caused by a deficiency in multiple sulfatase enzymes, or in formylglycine-generating enzyme, which activates sulfatases.〔Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.〕 It is similar to mucopolysaccharidosis. ==Causes== Multiple sulfatase deficiency is thought to be caused by any mutation of the SUMF1 gene which would render it's protein product, the formylglycine-generating enzyme (FGE), defective. These mutations result in inactive forms of FGE. This enzyme is required for posttranslational modification of a cysteine residue in the sulfatase enzyme active site into formylglycine, which is required for its proper function. 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「Multiple sulfatase deficiency」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.