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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 ATP7A ： ウィキペディア英語版 ATP7A ATP7A, also known as Menkes’ protein (MNK), is a copper-transporting P-type ATPase which uses the energy arising from ATP hydrolysis to transport Cu(I) across cell membranes. The ATP7A protein is a transmembrane protein and is expressed in the intestine and all tissues except liver. In the intestine, ATP7A regulates Cu(I) absorption in the human body by transporting Cu(I) from the small intestine into the blood. In other tissues, ATP7A shuttles between the Golgi apparatus and the cell membrane to maintain proper Cu(I) concentrations (since there is no free Cu(I) in the cell, Cu(I) ions are all tightly bound) in the cell and provides certain enzymes with Cu(I) (e.g. peptidyl-α-monooxygenase, tyrosinase, and lysyl oxidase). The X-linked, inherited, lethal genetic disorder of the ''ATP7A'' gene causes Menkes disease, a copper deficiency resulting in early childhood death. == Gene == The ''ATP7A'' gene is located on the long (q) arm of the X chromosome between at position 13.3. The encoded ATP7A protein has 1,500 amino acids. Mutations/additions/deletions of this gene often cause copper deficiency, which leads to progressive neurodegeneration and death in children.〔 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「ATP7A」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.