葡萄糖-6-磷酸脱氢酶
（重定向自G6PD）
| 葡萄糖-6-磷酸脱氢酶 | |||||||||
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| 葡萄糖-6-磷酸脱氢酶结构（PDB 1qki） | |||||||||
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| 识别码 | |||||||||
| EC編號 | 1.1.1.49 | ||||||||
| CAS号 | 9001-40-5 | ||||||||
| 数据库 | |||||||||
| IntEnz | IntEnz浏览 | ||||||||
| BRENDA | BRENDA入口 | ||||||||
| ExPASy | NiceZyme浏览 | ||||||||
| KEGG | KEGG入口 | ||||||||
| MetaCyc | 代谢路径 | ||||||||
| PRIAM | 概述 | ||||||||
| PDB | RCSB PDB PDBj PDBe PDBsum | ||||||||
| 基因本体 | AmiGO / EGO | ||||||||
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葡萄糖-6-磷酸脱氢酶（英語：glucose-6-phosphate dehydrogenase，EC 1.1.1.49 （页面存档备份，存于互联网档案馆））是一种以NAD+或NADP+为受体、作用于供体CH-OH基团上的氧化还原酶。这种酶能催化以下酶促反应：
- D-葡萄糖-6-磷酸 + NADP+ D-葡萄糖酸-1,5-内酯-6-磷酸 + NADPH + H+
葡萄糖-6-磷酸脱氢酶主要参与磷酸戊糖途径，也能缓慢地作用在β-D-葡萄糖等其他糖类上。这种酶可由其底物葡萄糖-6-磷酸激活。
葡萄糖-6-磷酸脱氢酶存在于众多生物细胞内，高等植物拥有数种葡萄糖-6-磷酸脱氢酶的蛋白异构体（protein isoform），它们分布于细胞质基质、和过氧化物酶体等细胞结构中[6]。如果人类表达葡萄糖-6-磷酸脱氢酶的基因有缺陷，将会导致葡萄糖-6-磷酸脱氢酶缺乏症，进而引发非免疫性溶血性贫血。
物种分布
[编辑]从细菌基因组到人类基因组中都有G6PD。一项对百余个物种的G6PD多重序列比對研究显示，不同物种间的G6PD基因相似度在30%到94%之间[7]，人与细菌间的相似度有30%[8]。
人类的G6PD基因存在两种蛋白异构体[9]，此基因上至少有168种与疾病有关的突变[10]，通常为改变氨基酸的错义突变[11]。
參考資料
[编辑]- ^ 與葡萄糖-6-磷酸脱氢酶相關的疾病；在維基數據上查看/編輯參考.
- ^ 2.0 2.1 2.2 GRCh38: Ensembl release 89: ENSG00000160211 - Ensembl, May 2017
- ^ 3.0 3.1 3.2 GRCm38: Ensembl release 89: ENSMUSG00000089992 - Ensembl, May 2017
- ^ Human PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Mouse PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Corpas FJ; et al. A dehydrogenase-mediated recycling system of NADPH in plant peroxisomes. Biochem. J. 1998, 330 (7): 777–784.
- ^ Kotaka M, Gover S, Vandeputte-Rutten L, Au SW, Lam VM, Adams MJ. Structural studies of glucose-6-phosphate and NADP+ binding to human glucose-6-phosphate dehydrogenase (PDF). Acta Crystallographica D. May 2005, 61 (Pt 5): 495–504. PMID 15858258. doi:10.1107/S0907444905002350
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- ^ Au SW, Gover S, Lam VM, Adams MJ. Human glucose-6-phosphate dehydrogenase: the crystal structure reveals a structural NADP(+) molecule and provides insights into enzyme deficiency. Structure. March 2000, 8 (3): 293–303. PMID 10745013. doi:10.1016/S0969-2126(00)00104-0 .
- ^ G6PD glucose-6-phosphate dehydrogenase [ Homo sapiens (human) ]. NCBI. [13 December 2015].
- ^ Šimčíková D, Heneberg P. Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases. Scientific Reports. December 2019, 9 (1): 18577. Bibcode:2019NatSR...918577S. PMC 6901466 . PMID 31819097. doi:10.1038/s41598-019-54976-4.
- ^ Kiani F, Schwarzl S, Fischer S, Efferth T. Three-dimensional modeling of glucose-6-phosphate dehydrogenase-deficient variants from German ancestry. PLOS ONE. July 2007, 2 (7): e625. Bibcode:2007PLoSO...2..625K. PMC 1913203 . PMID 17637841. doi:10.1371/journal.pone.0000625 .
延伸阅读
[编辑]- Vulliamy T, Beutler E, Luzzatto L. Variants of glucose-6-phosphate dehydrogenase are due to missense mutations spread throughout the coding region of the gene.. Hum. Mutat. 1993, 2 (3): 159–67. PMID 8364584. doi:10.1002/humu.1380020302.
- Mason PJ. New insights into G6PD deficiency.. Br. J. Haematol. 1996, 94 (4): 585–91. PMID 8826878.
- Wajcman H, Galactéros F. [Glucose 6-phosphate dehydrogenase deficiency: a protection against malaria and a risk for hemolytic accidents]. C. R. Biol. 2004, 327 (8): 711–20. PMID 15506519.