H6PD

From Wikipedia, the free encyclopedia

Hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)

Identifiers

H6PD; GDH; DKFZp686A01246; G6PDH; MGC87643

External IDs

OMIM: 138090 MGI: 2140356 HomoloGene: 48275

Gene ontology
Molecular Function:	• glucose-6-phosphate dehydrogenase activity • oxidoreductase activity • hydrolase activity • 6-phosphogluconolactonase activity • glucose 1-dehydrogenase activity
Cellular Component:	• endoplasmic reticulum • microsome
Biological Process:	• carbohydrate metabolic process • glucose metabolic process • pentose-phosphate shunt

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_004285 (mRNA)
NP_004276 (protein)

NM_173371 (mRNA)
NP_775547 (protein)

Location

Chr 1: 9.22 - 9.25 Mb

Chr 4: 148.82 - 148.85 Mb

Pubmed search

[1]

[2]

Hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase), also known as H6PD, is a human gene.^[1]

There are 2 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.^[1]

[edit] References

^ ^a ^b Entrez Gene: H6PD hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase).

[edit] Further reading

Tan SG, Ashton GC (1976). "An autosomal glucose-6-phosphate dehydrogenase (hexose-6-phosphate dehydrogenase) polymorphism in human saliva.". Hum. Hered. 26 (2): 113–23. PMID 950237.
Beutler E, Morrison M (1968). "Localization and characteristics of hexose 6-phosphate dehydrogenase (glucose dehydrogenase).". J. Biol. Chem. 242 (22): 5289–93. PMID 4169027.
Toncheva D, Evrev T, Tzoneva M (1982). "G6PD in immature and mature human brain. Electrophoretic and enzyme kinetic studies.". Hum. Hered. 32 (3): 193–6. PMID 7106784.
Mason PJ, Stevens D, Diez A, et al. (1999). "Human hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) encoded at 1p36: coding sequence and expression.". Blood Cells Mol. Dis. 25 (1): 30–7. doi:10.1006/bcmd.1999.0224. PMID 10349511.
Ikegwuonu FI, Jefcoate CR (1999). "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. PMID 10497882.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. doi:10.1073/pnas.242603899. PMID 12477932.
Clarke JL, Mason PJ (2003). "Murine hexose-6-phosphate dehydrogenase: a bifunctional enzyme with broad substrate specificity and 6-phosphogluconolactonase activity.". Arch. Biochem. Biophys. 415 (2): 229–34. PMID 12831846.
Draper N, Walker EA, Bujalska IJ, et al. (2003). "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. doi:10.1038/ng1214. PMID 12858176.
Clark AG, Glanowski S, Nielsen R, et al. (2003). "Inferring nonneutral evolution from human-chimp-mouse orthologous gene trios.". Science 302 (5652): 1960–3. doi:10.1126/science.1088821. PMID 14671302.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Atanasov AG, Nashev LG, Schweizer RA, et al. (2004). "Hexose-6-phosphate dehydrogenase determines the reaction direction of 11beta-hydroxysteroid dehydrogenase type 1 as an oxoreductase.". FEBS Lett. 571 (1-3): 129–33. doi:10.1016/j.febslet.2004.06.065. PMID 15280030.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
Gumuslu S, Yucel G, Sarikcioglu SB, Serteser M (2005). "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. doi:10.1016/j.vascn.2004.09.002. PMID 15767211.
Manco L, Gonçalves P, Macedo-Ribeiro S, et al. (2006). "Two new glucose-6-phosphate dehydrogenase mutations causing chronic hemolysis.". Haematologica 90 (8): 1135–6. PMID 16079115.
Perifanis V, Tziomalos K, Tsatra I, et al. (2006). "Prevalence and severity of liver disease in patients with b thalassemia major. A single-institution fifteen-year experience.". Haematologica 90 (8): 1136–8. PMID 16079116.
Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1.". Nature 441 (7091): 315–21. doi:10.1038/nature04727. PMID 16710414.