Gene Review:
G6PD - glucose-6-phosphate dehydrogenase
Homo sapiens
Synonyms:
G6PD1, Glucose-6-phosphate 1-dehydrogenase
Denny,
Huppke,
Krämer,
Wijnen,
Mason,
Hanefeld,
Bohlander,
Siddiqi,
Roos,
Stein,
de Boer,
Vulliamy,
Huang,
Laccone,
Ong,
Garcia,
Stevens,
Gómez-Gallego,
Chen,
Livingston,
Hamdi Ogüs,
Jane A. Leopold,
Aamir Dam,
Bradley A. Maron,
Anne W. Scribner,
Ronglih Liao,
Diane E. Handy,
Robert C. Stanton,
Bertram Pitt,
Joseph Loscalzo,
Chang,
Beutler,
Bilgi,
Bautista,
Siegel,
Ploem,
van Noorden,
van Zwieten,
Weening,
Huang,
Chen,
Pronk-Admiraal,
Ozer,
de Rijk,
Khan,
Deitch,
Spolarics,
- Glucose-6-phosphate dehydrogenase deficiency, the UDP-glucuronosyl transferase 1A1 gene, and neonatal hyperbilirubinemia. Huang, C.S., Chang, P.F., Huang, M.J., Chen, E.S., Chen, W.C. Gastroenterology (2002)
- Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia. Vulliamy, T.J., D'Urso, M., Battistuzzi, G., Estrada, M., Foulkes, N.S., Martini, G., Calabro, V., Poggi, V., Giordano, R., Town, M. Proc. Natl. Acad. Sci. U.S.A. (1988)
- Multiple glucose 6-phosphate dehydrogenase-deficient variants correlate with malaria endemicity in the Vanuatu archipelago (southwestern Pacific). Ganczakowski, M., Town, M., Bowden, D.K., Vulliamy, T.J., Kaneko, A., Clegg, J.B., Weatherall, D.J., Luzzatto, L. Am. J. Hum. Genet. (1995)
- Quantitative evolutionary design of glucose 6-phosphate dehydrogenase expression in human erythrocytes. Salvador, A., Savageau, M.A. Proc. Natl. Acad. Sci. U.S.A. (2003)
- Evidence of an oxidative challenge in the Alzheimer's brain. Balazs, L., Leon, M. Neurochem. Res. (1994)
- Altered methylation pattern of the G6 PD promoter in Rett syndrome. Huppke, P., Bohlander, S., Krämer, N., Laccone, F., Hanefeld, F. Neuropediatrics. (2002)
- Mental retardation in heterozygotes for the fragile-X mutation: evidence in favor of an X inactivation-dependent effect. Rocchi, M., Archidiacono, N., Rinaldi, A., Filippi, G., Bartolucci, G., Fancello, G.S., Siniscalco, M. Am. J. Hum. Genet. (1990)
- Evidence against close linkage of unipolar affective illness to human chromosome 11p markers HRAS1 and INS and chromosome Xq marker DXS52. Neiswanger, K., Slaugenhaupt, S.A., Hughes, H.B., Frank, E., Frankel, D.R., McCarty, M.J., Chakravarti, A., Zubenko, G.S., Kupfer, D.J., Kaplan, B.B. Biol. Psychiatry (1990)
- Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency. Draper, N., Walker, E.A., Bujalska, I.J., Tomlinson, J.W., Chalder, S.M., Arlt, W., Lavery, G.G., Bedendo, O., Ray, D.W., Laing, I., Malunowicz, E., White, P.C., Hewison, M., Mason, P.J., Connell, J.M., Shackleton, C.H., Stewart, P.M. Nat. Genet. (2003)
- Pyruvate kinase deficiency in mice protects against malaria. Min-Oo, G., Fortin, A., Tam, M.F., Nantel, A., Stevenson, M.M., Gros, P. Nat. Genet. (2003)
- Diminished support for linkage between manic depressive illness and X-chromosome markers in three Israeli pedigrees. Baron, M., Freimer, N.F., Risch, N., Lerer, B., Alexander, J.R., Straub, R.E., Asokan, S., Das, K., Peterson, A., Amos, J. Nat. Genet. (1993)
- Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus. van den Ouweland, A.M., Dreesen, J.C., Verdijk, M., Knoers, N.V., Monnens, L.A., Rocchi, M., van Oost, B.A. Nat. Genet. (1992)
- More on the association of glucose-6-phosphate dehydrogenase deficiency with hairy-cell leukemia. Beutler, E., Kuhl, W., Gilsanz, F., Toscano, R.M. N. Engl. J. Med. (1991)
- Hemolytic anemia in hereditary pyrimidine 5'-nucleotidase deficiency: nucleotide inhibition of G6PD and the pentose phosphate shunt. Tomoda, A., Noble, N.A., Lachant, N.A., Tanaka, K.R. Blood (1982)
- Active involvement of catalase during hemolytic crises of favism. Gaetani, G.F., Rolfo, M., Arena, S., Mangerini, R., Meloni, G.F., Ferraris, A.M. Blood (1996)
- Glucose-6-phosphate dehydrogenase deficiency and the inflammatory response to endotoxin and polymicrobial sepsis. Wilmanski, J., Villanueva, E., Deitch, E.A., Spolarics, Z. Crit. Care Med. (2007)
- Human glucose-6-phosphate dehydrogenase: the crystal structure reveals a structural NADP(+) molecule and provides insights into enzyme deficiency. Au, S.W., Gover, S., Lam, V.M., Adams, M.J. Structure (2000)
- Molecular aspects of erythroenzymopathies associated with hereditary hemolytic anemia. Miwa, S., Fujii, H. Am. J. Hematol. (1985)
- Clusters of CpG dinucleotides implicated by nuclease hypersensitivity as control elements of housekeeping genes. Wolf, S.F., Migeon, B.R. Nature (1985)
- Distinction of seventy-one cultured human tumor cell lines by polymorphic enzyme analysis. Wright, W.C., Daniels, W.P., Fogh, J. J. Natl. Cancer Inst. (1981)
- Rapid determination of clonality by detection of two closely-linked X chromosome exonic polymorphisms using allele-specific PCR. Liu, Y., Phelan, J., Go, R.C., Prchal, J.F., Prchal, J.T. J. Clin. Invest. (1997)
- Structural analysis of the X-linked gene encoding human glucose 6-phosphate dehydrogenase. Martini, G., Toniolo, D., Vulliamy, T., Luzzatto, L., Dono, R., Viglietto, G., Paonessa, G., D'Urso, M., Persico, M.G. EMBO J. (1986)
- Alternative splicing of human glucose-6-phosphate dehydrogenase messenger RNA in different tissues. Hirono, A., Beutler, E. J. Clin. Invest. (1989)
- Localization of loci for hypoxanthine phosphoribosyltransferase and glucose-6-phosphate dehydrogenase and biochemical evidence of nonrandom X chromosome expression from studies of a human X-autosome translocation. Pai, G.S., Sprenkle, J.A., Do, T.T., Mareni, C.E., Migeon, B.R. Proc. Natl. Acad. Sci. U.S.A. (1980)
- Molecular cloning and nucleotide sequence of cDNA for human glucose-6-phosphate dehydrogenase variant A(-). Hirono, A., Beutler, E. Proc. Natl. Acad. Sci. U.S.A. (1988)
- Molecular basis and enzymatic properties of glucose 6-phosphate dehydrogenase volendam, leading to chronic nonspherocytic anemia, granulocyte dysfunction, and increased susceptibility to infections. Roos, D., van Zwieten, R., Wijnen, J.T., Gómez-Gallego, F., de Boer, M., Stevens, D., Pronk-Admiraal, C.J., de Rijk, T., van Noorden, C.J., Weening, R.S., Vulliamy, T.J., Ploem, J.E., Mason, P.J., Bautista, J.M., Khan, P.M., Beutler, E. Blood (1999)
- Aldosterone impairs vascular reactivity by decreasing glucose-6-phosphate dehydrogenase activity. Leopold, J.A., Dam, A., Maron, B.A., Scribner, A.W., Liao, R., Handy, D.E., Stanton, R.C., Pitt, B., Loscalzo, J. Nat. Med. (2007)
- Gaucher disease. III. Substrate specificity of glucocerebrosidase and the use of nonlabeled natural substrates for the investigation of patients. Choy, F.Y., Davidson, R.G. Am. J. Hum. Genet. (1980)
- Transaldolase is part of a supramolecular complex containing glucose-6-phosphate dehydrogenase in human neutrophils that undergoes retrograde trafficking during pregnancy. Huang, J.B., Espinoza, J., Romero, R., Petty, H.R. Metab. Clin. Exp. (2005)
- Enzymatic assay of magnesium through glucokinase activation. Fossati, P., Sirtoli, M., Tarenghi, G., Giachetti, M., Berti, G. Clin. Chem. (1989)
- Human erythrocyte glucose 6-phosphate dehydrogenase. Evidence for competitive binding of NADP and NADPH. Morelli, A., Benatti, U., Giuliano, F., De Flora, A. Biochem. Biophys. Res. Commun. (1976)
- Haemoglobin, serum iron, transferrin, ferritin concentrations and total iron-binding capacity in erythrocyte glucose-6-phosphate dehydrogenase deficiency. Wong, C.T., Saha, N. Tropical and geographical medicine. (1987)
- Severe hemophilia A in a female by cryptic translocation: order and orientation of factor VIII within Xq28. Migeon, B.R., McGinniss, M.J., Antonarakis, S.E., Axelman, J., Stasiowski, B.A., Youssoufian, H., Kearns, W.G., Chung, A., Pearson, P.L., Kazazian, H.H. Genomics (1993)
- Perspectives on hydrogen peroxide and drug-induced hemolytic anemia in glucose-6-phosphate dehydrogenase deficiency. Hochstein, P. Free Radic. Biol. Med. (1988)
- Reactivation of an inactive human X chromosome: evidence for X inactivation by DNA methylation. Mohandas, T., Sparkes, R.S., Shapiro, L.J. Science (1981)
- Synthetic parathyroid hormone fragments shortened at the amino terminus stimulate glucose-6-phosphate dehydrogenase activity in the distal renal tubule. Sakaguchi, K., Fukase, M., Kobayashi, I., Kimura, T., Sakakibara, S., Katsuragi, S., Morita, K., Noda, T., Fujita, T. J. Bone Miner. Res. (1987)
- The influence of insulin on various enzyme activities in human and rat hepatoma cells. Grimm, J. Eur. J. Biochem. (1976)
- Signal transduction proteins that associate with the platelet-derived growth factor (PDGF) receptor mediate the PDGF-induced release of glucose-6-phosphate dehydrogenase from permeabilized cells. Tian, W.N., Pignatare, J.N., Stanton, R.C. J. Biol. Chem. (1994)
- Dog liver glucose-6-phosphate dehydrogenase: purification and kinetic properties. Ozer, N., Bilgi, C., Hamdi Ogüs, I. Int. J. Biochem. Cell Biol. (2002)
- The human mRNA that provides the N-terminus of chimeric G6PD encodes GMP reductase. Henikoff, S., Smith, J.M. Cell (1989)
- X-chromosome markers and manic-depressive illness. Rejection of linkage to Xq28 in nine bipolar pedigrees. Berrettini, W.H., Goldin, L.R., Gelernter, J., Gejman, P.V., Gershon, E.S., Detera-Wadleigh, S. Arch. Gen. Psychiatry (1990)
- Human X-Linked genes regionally mapped utilizing X-autosome translocations and somatic cell hybrids. Shows, T.B., Brown, J.A. Proc. Natl. Acad. Sci. U.S.A. (1975)
- Cytogenetic and molecular studies on a recombinant human X chromosome: implications for the spreading of X chromosome inactivation. Mohandas, T., Geller, R.L., Yen, P.H., Rosendorff, J., Bernstein, R., Yoshida, A., Shapiro, L.J. Proc. Natl. Acad. Sci. U.S.A. (1987)
- Deletion of leucine 61 in glucose-6-phosphate dehydrogenase leads to chronic nonspherocytic anemia, granulocyte dysfunction, and increased susceptibility to infections. van Bruggen, R., Bautista, J.M., Petropoulou, T., de Boer, M., van Zwieten, R., Gómez-Gallego, F., Belohradsky, B.H., Hartwig, N.G., Stevens, D., Mason, P.J., Roos, D. Blood (2002)
- Frequent derepression of G6PD and HPRT on the marsupial inactive X chromosome associated with cell proliferation in vitro. Migeon, B.R., Jan de Beur, S., Axelman, J. Exp. Cell Res. (1989)
- Increased HK1 activity levels in the red cells of a patient with a de novo trisomy 10p: t(Y;10)(p11;p12). Dallapiccola, B., Chessa, L., Vignetti, P., Ferrante, E., Gandini, E. Hum. Genet. (1979)
- Increased incidence of sepsis and altered monocyte functions in severely injured type A- glucose-6-phosphate dehydrogenase-deficient African American trauma patients. Spolarics, Z., Siddiqi, M., Siegel, J.H., Garcia, Z.C., Stein, D.S., Ong, H., Livingston, D.H., Denny, T., Deitch, E.A. Crit. Care Med. (2001)