翻訳と辞書 Words near each other ・ Aldehorno ・ Aldehuela ・ Aldehuela de Jerte ・ Aldehuela de la Bóveda ・ Aldehuela de Liestos ・ Aldehuela de Periáñez ・ Aldehuela de Yeltes ・ Aldehuela del Codonal ・ Aldehyde ・ Aldehyde dehydrogenase ・ Aldehyde dehydrogenase (FAD-independent) ・ Aldehyde dehydrogenase (NAD(P)+) ・ Aldehyde dehydrogenase (NAD+) ・ Aldehyde dehydrogenase (NADP+) ・ Aldehyde dehydrogenase (pyrroloquinoline-quinone) ・ Aldehyde dehydrogenase 18 family, member A1 ・ Aldehyde dehydrogenase 3 family, member A1 ・ Aldehyde dehydrogenase 4 family, member A1 ・ Aldehyde dehydrogenase 5 family, member A1 ・ Aldehyde dehydrogenase 6 family, member A1 ・ Aldehyde dehydrogenase 9 family, member A1 ・ Aldehyde ferredoxin oxidoreductase ・ Aldehyde oxidase ・ Aldehyde oxidase 1 ・ Aldehyde oxidase and xanthine dehydrogenase, a/b hammerhead domain ・ Aldehyde tag ・ Aldeia Campista ・ Aldeia da Ponte ・ Aldeia de Paio Pires ・ Aldeia de Santa Margarida 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 Aldehyde dehydrogenase 18 family, member A1 ： ウィキペディア英語版 Aldehyde dehydrogenase 18 family, member A1 Delta-1-pyrroline-5-carboxylate synthetase (P5CS) is an enzyme that in humans is encoded by the ''ALDH18A1'' gene.〔(【引用サイトリンク】 url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5832 )〕 This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduction of glutamate to delta1-pyrroline-5-carboxylate, a critical step in the de novo biosynthesis of proline, ornithine and arginine. Mutations in this gene lead to hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia and may be associated with neurodegeneration, cataracts and connective tissue diseases. Alternatively spliced transcript variants, encoding different isoforms, have been described for this gene.〔 == Structure == P5CS consists of two domains: gamma-glutamyl kinase and gamma-glutamyl phosphate reductase, each of which are used to complete the two steps to create ornithine and proline. The gamma-glutamyl kinase domain employs a 367-residue chain that folds into an N-terminal amino acid kinase domain, responsible for catalysis and proline inhibition, and a C-terminal PUA RNA binding domain. This enzyme is also a tetramer formed by two dimers, and the monomers and dimers are assembled in a manner that allows the amino acid kinase active pockets to be alternatively oriented in the tetramer. The short version (P5CS.short) and the long version (P5CS.long) of PC5S are two isoforms of this enzyme which differs by the addition of two amino acids in the long form and with an extra 6-bp insert following bp+711. This slight difference creates a dramatic difference in how they are affected by the inhibition of ornithine. The ''ALDH18A1'' gene spans 15 kb, is mapped on 10q24.3, and has an exon count of 18.〔 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「Aldehyde dehydrogenase 18 family, member A1」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.