カンノ　ヒトシ   菅野　仁    所属   医学部 医学科（東京女子医科大学病院）    職種   特任教授
論文種別	総説
言語種別	英語
査読の有無	査読あり
表題	Hexokinase: gene structure and mutations.
掲載誌名	正式名：Baillière's best practice&research. Clinical haematology 略　 称：Baillieres Best Pract Res Clin Haematol
巻・号・頁	13(1),pp.83-8
著者・共著者	Kanno H
担当区分	筆頭著者,責任著者
発行年月	2000/03
概要	Hexokinase (HK)deficiency is a rare red cell enzyme deficiency associated with hereditary non-spherocytic haemolytic anaemia; to date, only 17 affected families have been reported. Human HK has four major isozymes, each of which is encoded by a separate gene. Recent studies have shown that both ubiquitously expressed type I HK (HK-I) and erythroid-specific HK-R are expressed in erythrocytes, and that these isozymes are encoded by the single HK-I gene. The human HK-I gene has 19 exons, the HK-I and HK-R transcripts being produced by using two distinct promoters. Thus, the first and second exons are specifically utilized for the erythroid-specific HK-R and ubiquitously expressed HK-I isozymes respectively. So far, only two HK variants have been analysed at the molecular level. Since the human HK-I crystal structure has recently been elucidated, the molecular analysis of the HK variants will be useful for discussing the structure-function relationship of the enzyme.
文献番号	10916679