H6PD explained

GDH/6PGL endoplasmic bifunctional protein is a protein that in humans is encoded by the H6PD gene.^{[1] [2]}

Function

There are two forms of glucose-6-phosphate dehydrogenase. G form is X-linked and H form, encoded by this gene, is autosomally linked. This H form shows activity with other hexose-6-phosphates, especially galactose-6-phosphate, whereas the G form is specific for glucose-6-phosphate. Both forms are present in most tissues, but H form is not found in red cells.

Further reading

• Tan SG, Ashton GC . An autosomal glucose-6-phosphate dehydrogenase (hexose-6-phosphate dehydrogenase) polymorphism in human saliva . Hum. Hered. . 26 . 2 . 113–23 . 1976 . 950237 . 10.1159/000152791 .
• Beutler E, Morrison M . Localization and characteristics of hexose 6-phosphate dehydrogenase (glucose dehydrogenase) . J. Biol. Chem. . 242 . 22 . 5289–93 . 1968 . 10.1016/S0021-9258(18)99426-3 . 4169027 . free .
• Toncheva D, Evrev T, Tzoneva M . G6PD in immature and mature human brain. Electrophoretic and enzyme kinetic studies . Hum. Hered. . 32 . 3 . 193–6 . 1982 . 7106784 . 10.1159/000153290.
• Ikegwuonu FI, Jefcoate CR . Evidence for the involvement of the fatty acid and peroxisomal beta-oxidation pathways in the inhibition by dehydroepiandrosterone (DHEA) and induction by 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) and benz(a)anthracene (BA) of cytochrome P4501B1 (CYP1B1) in mouse embryo fibroblasts (C3H10T1/2 cells) . Mol. Cell. Biochem. . 198 . 1–2 . 89–100 . 1999 . 10497882 . 10.1023/A:1006954216233 . 6713443 .
• Strausberg RL . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . vanc. Feingold EA . Grouse LH . 3 . Derge . JG . Klausner . RD . Collins . FS . Wagner . L . Shenmen . CM . Schuler . GD . 2002PNAS...9916899M . free .
• Clarke JL, Mason PJ . Murine hexose-6-phosphate dehydrogenase: a bifunctional enzyme with broad substrate specificity and 6-phosphogluconolactonase activity . Arch. Biochem. Biophys. . 415 . 2 . 229–34 . 2003 . 12831846 . 10.1016/S0003-9861(03)00229-7 .
• Draper N . Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency . Nat. Genet. . 34 . 4 . 434–9 . 2003 . 12858176 . 10.1038/ng1214 . vanc. Walker EA . Bujalska IJ . 3 . Tomlinson . Jeremy W . Chalder . Susan M . Arlt . Wiebke . Lavery . Gareth G . Bedendo . Oliver . Ray . David W . 22772927 .
• Clark AG . Inferring nonneutral evolution from human-chimp-mouse orthologous gene trios . Science . 302 . 5652 . 1960–3 . 2003 . 14671302 . 10.1126/science.1088821 . vanc. Glanowski S . Nielsen R . 3 . Thomas . PD . Kejariwal . A . Todd . MA . Tanenbaum . DM . Civello . D . Lu . F . 2003Sci...302.1960C . 6682593 .
• Ota T . Complete sequencing and characterization of 21,243 full-length human cDNAs . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . vanc. Suzuki Y . Nishikawa T . 3 . Otsuki . Tetsuji . Sugiyama . Tomoyasu . Irie . Ryotaro . Wakamatsu . Ai . Hayashi . Koji . Sato . Hiroyuki . free .
• Gerhard DS . The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 . vanc. Wagner L . Feingold EA . 3 . Shenmen . CM . Grouse . LH . Schuler . G . Klein . SL . Old . S . Rasooly . R .
• Gumuslu S, Yucel G, Sarikcioglu SB, Serteser M . Application of a new chemiluminescence method for the determination of glucose-6-phosphate dehydrogenase activity in healthy and enzyme-deficient individuals . Journal of Pharmacological and Toxicological Methods . 51 . 2 . 169–74 . 2005 . 15767211 . 10.1016/j.vascn.2004.09.002 .
• Manco L . Two new glucose-6-phosphate dehydrogenase mutations causing chronic hemolysis . Haematologica . 90 . 8 . 1135–6 . 2006 . 16079115 . vanc. Gonçalves P . Macedo-Ribeiro S . 3 . Seabra . C . Melo . P . Ribeiro . ML .
• Perifanis V . Prevalence and severity of liver disease in patients with b thalassemia major. A single-institution fifteen-year experience . Haematologica . 90 . 8 . 1136–8 . 2006 . 16079116 . vanc. Tziomalos K . Tsatra I . 3 . Karyda . S . Patsiaoura . K . Athanassiou-Metaxa . M .
• Gregory SG . The DNA sequence and biological annotation of human chromosome 1 . Nature . 441 . 7091 . 315–21 . 2006 . 16710414 . 10.1038/nature04727 . vanc. Barlow KF . McLay KE . 3 . Kaul . R. . Swarbreck . D. . Dunham . A. . Scott . C. E. . Howe . K. L. . Woodfine . K. . 2006Natur.441..315G . free .

Notes and References

1. Mason PJ, Stevens D, Diez A, Knight SW, Scopes DA, Vulliamy TJ . Human hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) encoded at 1p36: coding sequence and expression . Blood Cells Mol Dis . 25 . 1 . 30–7 . Jul 1999 . 10349511 . 10.1006/bcmd.1999.0224 .
2. Web site: Entrez Gene: H6PD hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase).