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词条 H6PD
释义

  1. Function

  2. References

  3. Further reading

{{Infobox_gene}}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.[2]

References

1. ^{{cite journal |vauthors=Mason PJ, Stevens D, Diez A, Knight SW, Scopes DA, Vulliamy TJ | title = Human hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) encoded at 1p36: coding sequence and expression | journal = Blood Cells Mol Dis | volume = 25 | issue = 1 | pages = 30–7 |date=Jul 1999 | pmid = 10349511 | pmc = | doi = 10.1006/bcmd.1999.0224 }}
2. ^{{cite web | title = Entrez Gene: H6PD hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9563| accessdate = }}

Further reading

{{refbegin | 2}}
  • {{cite journal |vauthors=Tan SG, Ashton GC |title=An autosomal glucose-6-phosphate dehydrogenase (hexose-6-phosphate dehydrogenase) polymorphism in human saliva |journal=Hum. Hered. |volume=26 |issue= 2 |pages= 113–23 |year= 1976 |pmid= 950237 |doi=10.1159/000152791 }}
  • {{cite journal |vauthors=Beutler E, Morrison M |title=Localization and characteristics of hexose 6-phosphate dehydrogenase (glucose dehydrogenase) |journal=J. Biol. Chem. |volume=242 |issue= 22 |pages= 5289–93 |year= 1968 |pmid= 4169027 |doi= }}
  • {{cite journal |vauthors=Toncheva D, Evrev T, Tzoneva M |title=G6PD in immature and mature human brain. Electrophoretic and enzyme kinetic studies |journal=Hum. Hered. |volume=32 |issue= 3 |pages= 193–6 |year= 1982 |pmid= 7106784 |doi= 10.1159/000153290}}
  • {{cite journal |vauthors=Ikegwuonu FI, Jefcoate CR |title=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) |journal=Mol. Cell. Biochem. |volume=198 |issue= 1–2 |pages= 89–100 |year= 1999 |pmid= 10497882 |doi=10.1023/A:1006954216233 }}
  • {{cite journal | author=Strausberg RL |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |name-list-format=vanc| author2=Feingold EA | author3=Grouse LH | display-authors=3 | last4=Derge | first4=JG | last5=Klausner | first5=RD | last6=Collins | first6=FS | last7=Wagner | first7=L | last8=Shenmen | first8=CM | last9=Schuler | first9=GD }}
  • {{cite journal |vauthors=Clarke JL, Mason PJ |title=Murine hexose-6-phosphate dehydrogenase: a bifunctional enzyme with broad substrate specificity and 6-phosphogluconolactonase activity |journal=Arch. Biochem. Biophys. |volume=415 |issue= 2 |pages= 229–34 |year= 2003 |pmid= 12831846 |doi=10.1016/S0003-9861(03)00229-7 }}
  • {{cite journal | author=Draper N |title=Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency |journal=Nat. Genet. |volume=34 |issue= 4 |pages= 434–9 |year= 2003 |pmid= 12858176 |doi= 10.1038/ng1214 |name-list-format=vanc| author2=Walker EA | author3=Bujalska IJ | display-authors=3 | last4=Tomlinson | first4=Jeremy W | last5=Chalder | first5=Susan M | last6=Arlt | first6=Wiebke | last7=Lavery | first7=Gareth G | last8=Bedendo | first8=Oliver | last9=Ray | first9=David W }}
  • {{cite journal | author=Clark AG |title=Inferring nonneutral evolution from human-chimp-mouse orthologous gene trios |journal=Science |volume=302 |issue= 5652 |pages= 1960–3 |year= 2003 |pmid= 14671302 |doi= 10.1126/science.1088821 |name-list-format=vanc| author2=Glanowski S | author3=Nielsen R | display-authors=3 | last4=Thomas | first4=PD | last5=Kejariwal | first5=A | last6=Todd | first6=MA | last7=Tanenbaum | first7=DM | last8=Civello | first8=D | last9=Lu | first9=F }}
  • {{cite journal | author=Ota T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |name-list-format=vanc| author2=Suzuki Y | author3=Nishikawa T | display-authors=3 | last4=Otsuki | first4=Tetsuji | last5=Sugiyama | first5=Tomoyasu | last6=Irie | first6=Ryotaro | last7=Wakamatsu | first7=Ai | last8=Hayashi | first8=Koji | last9=Sato | first9=Hiroyuki }}
  • {{cite journal | author=Gerhard DS |title=The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 |name-list-format=vanc| author2=Wagner L | author3=Feingold EA | display-authors=3 | last4=Shenmen | first4=CM | last5=Grouse | first5=LH | last6=Schuler | first6=G | last7=Klein | first7=SL | last8=Old | first8=S | last9=Rasooly | first9=R }}
  • {{cite journal |vauthors=Gumuslu S, Yucel G, Sarikcioglu SB, Serteser M |title=Application of a new chemiluminescence method for the determination of glucose-6-phosphate dehydrogenase activity in healthy and enzyme-deficient individuals |journal=Journal of pharmacological and toxicological methods |volume=51 |issue= 2 |pages= 169–74 |year= 2005 |pmid= 15767211 |doi= 10.1016/j.vascn.2004.09.002 }}
  • {{cite journal | author=Manco L |title=Two new glucose-6-phosphate dehydrogenase mutations causing chronic hemolysis |journal=Haematologica |volume=90 |issue= 8 |pages= 1135–6 |year= 2006 |pmid= 16079115 |doi= |name-list-format=vanc| author2=Gonçalves P | author3=Macedo-Ribeiro S | display-authors=3 | last4=Seabra | first4=C | last5=Melo | first5=P | last6=Ribeiro | first6=ML }}
  • {{cite journal | author=Perifanis V |title=Prevalence and severity of liver disease in patients with b thalassemia major. A single-institution fifteen-year experience |journal=Haematologica |volume=90 |issue= 8 |pages= 1136–8 |year= 2006 |pmid= 16079116 |doi= |name-list-format=vanc| author2=Tziomalos K | author3=Tsatra I | display-authors=3 | last4=Karyda | first4=S | last5=Patsiaoura | first5=K | last6=Athanassiou-Metaxa | first6=M }}
  • {{cite journal | author=Gregory SG |title=The DNA sequence and biological annotation of human chromosome 1 |journal=Nature |volume=441 |issue= 7091 |pages= 315–21 |year= 2006 |pmid= 16710414 |doi= 10.1038/nature04727 |name-list-format=vanc| author2=Barlow KF | author3=McLay KE | display-authors=3 | last4=Kaul | first4=R. | last5=Swarbreck | first5=D. | last6=Dunham | first6=A. | last7=Scott | first7=C. E. | last8=Howe | first8=K. L. | last9=Woodfine | first9=K. }}
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