Biology:G6PC

Generic protein structure example

Glucose-6-phosphatase, catalytic subunit (glucose 6-phosphatase alpha) is an enzyme that in humans is encoded by the G6PC gene.

Glucose-6-phosphatase is an integral membrane protein of the endoplasmic reticulum that catalyzes the hydrolysis of D-glucose 6-phosphate to D-glucose and orthophosphate. It is a key enzyme in glucose homeostasis, functioning in gluconeogenesis and glycogenolysis. Defects in the enzyme cause glycogen storage disease type I (von Gierke disease).

See also

• G6PC2
• G6PC3
• glucose 6-phosphatase
• glycogen storage disease type I

Further reading

• "The fine structural localization of testicular phosphatases in man: the control testis.". Cell Tissue Res. 166 (4): 497–510. 1976. doi:10.1007/BF00225914. PMID 175958. 
• "A new variant of glycogen storage disease type I probably due to a defect in the glucose-6-phosphate transport system.". Biochem. Biophys. Res. Commun. 83 (4): 1360–4. 1978. doi:10.1016/0006-291X(78)91371-2. PMID 212064. 
• "Diagnosis of a novel glycogen storage disease: type 1aSP.". J. Inherit. Metab. Dis. 13 (3): 247–9. 1990. doi:10.1007/BF01799362. PMID 2172641. 
• "The microsomal glucose-6-phosphatase enzyme of human gall-bladder.". J. Pathol. 158 (1): 53–6. 1989. doi:10.1002/path.1711580111. PMID 2547044. 
• "Evidence for the cerebral uptake in vivo from two pools of glucose and the role of glucose-6-phosphatase in removing excess substrate from brain.". Neurochem. Res. 10 (2): 201–27. 1985. doi:10.1007/BF00964568. PMID 2986020. 
• "Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus.". Am. J. Hum. Genet. 57 (4): 766–71. 1995. PMID 7573034. 
• "Characterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type 1a: R83C in six Jews and a novel V166G mutation in a Muslim Arab.". J. Inherit. Metab. Dis. 18 (1): 21–7. 1995. doi:10.1007/BF00711368. PMID 7623438. 
• "Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type Ia.". Hum. Mol. Genet. 4 (6): 1095–6. 1995. doi:10.1093/hmg/4.6.1095. PMID 7655466. 
• "Exon redefinition by a point mutation within exon 5 of the glucose-6-phosphatase gene is the major cause of glycogen storage disease type 1a in Japan.". Am. J. Hum. Genet. 57 (3): 549–55. 1995. PMID 7668282. 
• "Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a.". J. Clin. Invest. 93 (5): 1994–9. 1994. doi:10.1172/JCI117192. PMID 8182131. 
• "Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a.". Science 262 (5133): 580–3. 1993. doi:10.1126/science.8211187. PMID 8211187. Bibcode: 1993Sci...262..580L. https://zenodo.org/record/1231249. 
• "Cloning and sequencing of the 5' region of the human glucose-6-phosphatase gene: transcriptional regulation by cAMP, insulin and glucocorticoids in H4IIE hepatoma cells.". FEBS Lett. 383 (1–2): 63–6. 1996. doi:10.1016/0014-5793(96)00224-4. PMID 8612793. 
• "Glucose-6-phosphatase dependent substrate transport in the glycogen storage disease type-1a mouse.". Nat. Genet. 13 (2): 203–9. 1996. doi:10.1038/ng0696-203. PMID 8640227. https://zenodo.org/record/1233391. 
• "Mutation analysis in 24 French patients with glycogen storage disease type 1a.". J. Med. Genet. 33 (5): 358–60. 1996. doi:10.1136/jmg.33.5.358. PMID 8733042. 
• "Genetic analysis of the glucose-6-phosphatase mutation of type 1a glycogen storage disease in a Chinese family.". Clin. Genet. 50 (4): 206–11. 1997. doi:10.1111/j.1399-0004.1996.tb02627.x. PMID 9001800. 
• "Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies.". Am. J. Med. Genet. 72 (3): 286–90. 1997. doi:10.1002/(SICI)1096-8628(19971031)72:3<286::AID-AJMG6>3.0.CO;2-P. PMID 9332655. https://zenodo.org/record/1235466. 
• "Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib.". FEBS Lett. 419 (2–3): 235–8. 1998. doi:10.1016/S0014-5793(97)01463-4. PMID 9428641. 
• "Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11.". Biochem. Biophys. Res. Commun. 248 (2): 426–31. 1998. doi:10.1006/bbrc.1998.8985. PMID 9675154. 
• "Asparagine-linked oligosaccharides are localized to a luminal hydrophilic loop in human glucose-6-phosphatase.". J. Biol. Chem. 273 (34): 21658–62. 1998. doi:10.1074/jbc.273.34.21658. PMID 9705299.