翻訳と辞書 Words near each other ・ Congenital chloride diarrhea ・ Congenital clasped thumb ・ Congenital contractural arachnodactyly ・ Congenital contractural arachnodactyly in cattle ・ Congenital cutaneous candidiasis ・ Congenital cytomegalovirus infection ・ Congenital dermal sinus ・ Congenital diaphragmatic hernia ・ Congenital disorder ・ Congenital disorder of glycosylation ・ Congenital disorder of glycosylation type IIc ・ Congenital disorders of amino acid metabolism ・ Congenital distal spinal muscular atrophy ・ Congenital dyserythropoietic anemia ・ Congenital dyserythropoietic anemia type I ・ Congenital dyserythropoietic anemia type II ・ Congenital dyserythropoietic anemia type III ・ Congenital dyserythropoietic anemia type IV ・ Congenital epulis ・ Congenital erosive and vesicular dermatosis ・ Congenital estrogen deficiency ・ Congenital fiber type disproportion ・ Congenital fibrosis of the extraocular muscles ・ Congenital fourth nerve palsy ・ Congenital generalized lipodystrophy ・ Congenital hearing loss ・ Congenital heart defect ・ Congenital Heart Surgeons' Society ・ Congenital hemolytic anemia ・ Congenital hepatic fibrosis 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 Congenital dyserythropoietic anemia type II ： ウィキペディア英語版 Congenital dyserythropoietic anemia type II Congenital dyserythropoietic anemia type II (CDA II), or HEMPAS is a rare genetic anemia in humans characterized by hereditary erythroblastic multinuclearity with positive acidified serum lysis test. ==Genetics== CDA type II is caused by mutations in the SEC23B gene. This gene provides instructions for making a protein that is involved in the transport of other proteins within cells. During the development of red blood cells, this protein may help ensure that proteins are transported to the areas where they are needed. Researchers are working to determine how mutations in the SEC23B gene lead to the signs and symptoms of CDA type II. Analyses of CDA II erythrocyte membranes showed that the band 3 glycoprotein is underglycosylated. An aberrant glycosylation pattern is seen in the polylactosamine carbohydrates which are normally attached to the band 3 and band 4.5 glycoproteins. The polylactosamines are, however, accumulated in the form of glycolipids. Therefore a genetic factor in CDA II appears to block the glycosylation of protein acceptors and shift these carbohydrates to the lipid acceptors. Structural analysis of CDA II band 3 carbohydrates identified truncated hybrid-type oligosaccharides and suggests that the Golgi glycosylation enzyme(s), alpha-mannosidase II or N-acetylglycosaminyltransferase II is defective in CDA II.〔 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「Congenital dyserythropoietic anemia type II」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.