翻訳と辞書 Words near each other ・ Glycerite ・ Glycerius ・ Glycerius (bishop of Milan) ・ Glycerius (disambiguation) ・ Glycerol ・ Glycerol (data page) ・ Glycerol 1-phosphate ・ Glycerol 2-dehydrogenase (NADP+) ・ Glycerol 3-phosphate ・ Glycerol dehydratase ・ Glycerol dehydrogenase ・ Glycerol dehydrogenase (acceptor) ・ Glycerol dehydrogenase (NADP+) ・ Glycerol ester of wood rosin ・ Glycerol kinase ・ Glycerol kinase deficiency ・ Glycerol monostearate ・ Glycerol phenylbutyrate ・ Glycerol phosphate shuttle ・ Glycerol-1,2-cyclic-phosphate 2-phosphodiesterase ・ Glycerol-1-phosphatase ・ Glycerol-2-phosphatase ・ Glycerol-3-phosphate 1-dehydrogenase (NADP+) ・ Glycerol-3-phosphate 2-O-acyltransferase ・ Glycerol-3-phosphate cytidylyltransferase ・ Glycerol-3-phosphate dehydrogenase ・ Glycerol-3-phosphate dehydrogenase (NAD(P)+) ・ Glycerol-3-phosphate dehydrogenase (NAD+) ・ Glycerol-3-phosphate dehydrogenase (quinone) ・ Glycerol-3-phosphate O-acyltransferase 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 Glycerol kinase deficiency ： ウィキペディア英語版 Glycerol kinase deficiency Glycerol Kinase Deficiency (GKD) is an X-linked recessive enzyme defect that is heterozygous in nature. Three clinically distinct forms of this deficiency have been proposed, namely infantile, juvenile, and adult. National Institutes of Health and its Office of Rare Diseases Research (ORDR) branch classifies GKD as a rare disease, known to affect less than 200,000 individuals in the United States. The responsible gene lies in a region containing genes in which deletions can cause Duchenne muscular dystrophy and adrenal hypoplasia congenita. Combinations of these three genetic defects including GKD are addressed medically as Complex GKD. ==Causes== Glycerol Kinase Deficiency has two main causes associated with it. *The first cause is isolated enzyme deficiency. The enzyme glycerol kinase is encoded by the X-chromosome in humans. It acts as a catalyst in the phosphorylation of glycerol to glycerol-3-phosphate which plays a key role in formation of triacylglycerol (TAG) and fat storage. There is no genotype–phenotype correlation in isolated GKD and it can be either symptomatic or asymptomatic. Symptomatic means that GKD shows symptoms when it persists in the body and asymptomatic means that the no symptoms appear in the body. In this deficiency the genotype is not associated with the phenotype. The presence of certain mutations in genes has no relation with the phenotype i.e. any resulting physical traits or abnormality. *The second cause is a deletion or mutation of a single gene. GKD is described by mendelian inheritance and is an X-linked recessive trait due to which it occurs mainly in males and occasionally in females. GKD results when the glycerol kinase gene present on the locus Xp21 of the X chromosome is either deleted or mutated. Females have two X chromosomes and males have one X and one Y chromosome .The expression of recessive genes on the X chromosome is different in males and females. This is due to the fact that genes present on the Y chromosome do not pair up with genes on the X chromosome in males. In females the disorder is expressed only when there are two copies of the affected gene present on each X chromosome but since the glycerol kinase gene is present only on one X chromosome the disorder is not expressed in women. Women have a second good copy that can compensate for the defect on the first copy. On the other hand males only need a single copy of the recessive gene for the disorder to be expressed. They do not have a second copy that can protect against any defect on the first copy. 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「Glycerol kinase 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.