翻訳と辞書 Words near each other ・ NDUFB6 ・ NDUFB7 ・ NDUFB8 ・ NDUFB9 ・ NDUFC1 ・ NDUFC2 ・ NDUFS1 ・ NDUFS2 ・ NDUFS3 ・ NDUFS4 ・ NDUFS5 ・ NDUFS6 ・ NDUFS7 ・ NDUFS8 ・ NDUFV1 ・ NDUFV2 ・ NDUFV3 ・ Nduga language ・ Nduga Regency ・ Ndugumbi ・ Nduguti ・ Nduka Anyanwu ・ Nduka Awazie ・ Nduka Obaigbena ・ Nduka Odizor ・ Nduka Onwuegbute ・ Nduka Ozokwo ・ Nduka Ugbade ・ Nduka Usim ・ Ndulele 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 NDUFV2 ： ウィキペディア英語版 NDUFV2 NADH dehydrogenase () flavoprotein 2, mitochondrial is an enzyme that in humans is encoded by the ''NDUFV2'' gene.〔(【引用サイトリンク】 url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4729 )〕 == Clinical significance == Mutations in the NDUFV2 gene are associated with Mitochondrial Complex I Deficiency, which is autosomal recessive. This deficiency is the most common enzymatic defect of the oxidative phosphorylation disorders. Mitochondrial complex I deficiency shows extreme genetic heterogeneity and can be caused by mutation in nuclear-encoded genes or in mitochondrial-encoded genes. There are no obvious genotype-phenotype correlations, and inference of the underlying basis from the clinical or biochemical presentation is difficult, if not impossible. However, the majority of cases are caused by mutations in nuclear-encoded genes. It causes a wide range of clinical disorders, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, nonspecific encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. 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「NDUFV2」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.