G6PC
{{Short description|Protein-coding gene in the species Homo sapiens}}
{{Infobox_gene}}
Glucose-6-phosphatase, catalytic subunit (glucose 6-phosphatase alpha) is an enzyme that in humans is encoded by the G6PC gene.{{cite journal |vauthors=Brody LC, Abel KJ, Castilla LH, Couch FJ, McKinley DR, Yin G, Ho PP, Merajver S, Chandrasekharappa SC, Xu J | title = Construction of a transcription map surrounding the BRCA1 locus of human chromosome 17 | journal = Genomics | volume = 25 | issue = 1 | pages = 238–47 |date=Jul 1995 | pmid = 7774924 | doi =10.1016/0888-7543(95)80131-5 | url = https://zenodo.org/record/1258609 |display-authors=etal| doi-access = free }}{{cite web | title = Entrez Gene: G6PC glucose-6-phosphatase, catalytic subunit| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2538}}
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).
Interactive pathway map
{{GlycolysisGluconeogenesis_WP534|highlight=G6PC}}
See also
References
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Further reading
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- {{cite journal |vauthors=Barham SS, Berlin JD, Brackeen RB |title=The fine structural localization of testicular phosphatases in man: the control testis. |journal=Cell Tissue Res. |volume=166 |issue= 4 |pages= 497–510 |year= 1976 |pmid= 175958 |doi=10.1007/BF00225914 |s2cid=1018896 }}
- {{cite journal |vauthors=Narisawa K, Igarashi Y, Otomo H, Tada K |title=A new variant of glycogen storage disease type I probably due to a defect in the glucose-6-phosphate transport system. |journal=Biochem. Biophys. Res. Commun. |volume=83 |issue= 4 |pages= 1360–4 |year= 1978 |pmid= 212064 |doi=10.1016/0006-291X(78)91371-2 }}
- {{cite journal |vauthors=Burchell A, Waddell ID |title=Diagnosis of a novel glycogen storage disease: type 1aSP. |journal=J. Inherit. Metab. Dis. |volume=13 |issue= 3 |pages= 247–9 |year= 1990 |pmid= 2172641 |doi=10.1007/BF01799362 |s2cid=31684550 }}
- {{cite journal |vauthors=Hill A, Waddell ID, Hopwood D, Burchell A |title=The microsomal glucose-6-phosphatase enzyme of human gall-bladder. |journal=J. Pathol. |volume=158 |issue= 1 |pages= 53–6 |year= 1989 |pmid= 2547044 |doi= 10.1002/path.1711580111 |s2cid=2715249 }}
- {{cite journal |vauthors=Sacks W, Cowburn D, Bigler RE |title=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. |journal=Neurochem. Res. |volume=10 |issue= 2 |pages= 201–27 |year= 1985 |pmid= 2986020 |doi=10.1007/BF00964568 |s2cid=19623609 |display-authors=etal}}
- {{cite journal |vauthors=Lei KJ, Chen YT, Chen H |title=Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus. |journal=Am. J. Hum. Genet. |volume=57 |issue= 4 |pages= 766–71 |year= 1995 |pmid= 7573034 | pmc=1801521 |display-authors=etal}}
- {{cite journal |vauthors=Parvari R, Moses S, Hershkovitz E |title=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. |journal=J. Inherit. Metab. Dis. |volume=18 |issue= 1 |pages= 21–7 |year= 1995 |pmid= 7623438 |doi=10.1007/BF00711368 |s2cid=20473459 |display-authors=etal}}
- {{cite journal |vauthors=Hwu WL, Chuang SC, Tsai LP |title=Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type Ia. |journal=Hum. Mol. Genet. |volume=4 |issue= 6 |pages= 1095–6 |year= 1995 |pmid= 7655466 |doi=10.1093/hmg/4.6.1095 |display-authors=etal}}
- {{cite journal |vauthors=Kajihara S, Matsuhashi S, Yamamoto K |title=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. |journal=Am. J. Hum. Genet. |volume=57 |issue= 3 |pages= 549–55 |year= 1995 |pmid= 7668282 | pmc=1801279 |display-authors=etal}}
- {{cite journal |vauthors=Lei KJ, Pan CJ, Shelly LL |title=Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a. |journal=J. Clin. Invest. |volume=93 |issue= 5 |pages= 1994–9 |year= 1994 |pmid= 8182131 |doi=10.1172/JCI117192 | pmc=294308 |display-authors=etal}}
- {{cite journal |vauthors=Lei KJ, Shelly LL, Pan CJ |title=Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a. |journal=Science |volume=262 |issue= 5133 |pages= 580–3 |year= 1993 |pmid= 8211187 |doi=10.1126/science.8211187 |bibcode=1993Sci...262..580L |display-authors=etal|url=https://zenodo.org/record/1231249 }}
- {{cite journal |vauthors=Schmoll D, Allan BB, Burchell A |title=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. |journal=FEBS Lett. |volume=383 |issue= 1–2 |pages= 63–6 |year= 1996 |pmid= 8612793 |doi=10.1016/0014-5793(96)00224-4 |s2cid=33796000 |doi-access= }}
- {{cite journal |vauthors=Lei KJ, Chen H, Pan CJ |title=Glucose-6-phosphatase dependent substrate transport in the glycogen storage disease type-1a mouse. |journal=Nat. Genet. |volume=13 |issue= 2 |pages= 203–9 |year= 1996 |pmid= 8640227 |doi= 10.1038/ng0696-203 |s2cid=2694838 |display-authors=etal|url=https://zenodo.org/record/1233391 }}
- {{cite journal |vauthors=Chevalier-Porst F, Bozon D, Bonardot AM |title=Mutation analysis in 24 French patients with glycogen storage disease type 1a. |journal=J. Med. Genet. |volume=33 |issue= 5 |pages= 358–60 |year= 1996 |pmid= 8733042 |doi=10.1136/jmg.33.5.358 | pmc=1050601 |display-authors=etal}}
- {{cite journal |vauthors=Lee WJ, Lee HM, Chi CS |title=Genetic analysis of the glucose-6-phosphatase mutation of type 1a glycogen storage disease in a Chinese family. |journal=Clin. Genet. |volume=50 |issue= 4 |pages= 206–11 |year= 1997 |pmid= 9001800 |doi=10.1111/j.1399-0004.1996.tb02627.x |s2cid=21218687 |display-authors=etal}}
- {{cite journal |vauthors=Parvari R, Lei KJ, Bashan N |title=Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies. |journal=Am. J. Med. Genet. |volume=72 |issue= 3 |pages= 286–90 |year= 1997 |pmid= 9332655 |doi=10.1002/(SICI)1096-8628(19971031)72:3<286::AID-AJMG6>3.0.CO;2-P |display-authors=etal|url=https://zenodo.org/record/1235466 }}
- {{cite journal |vauthors=Gerin I, Veiga-da-Cunha M, Achouri Y |title=Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib. |journal=FEBS Lett. |volume=419 |issue= 2–3 |pages= 235–8 |year= 1998 |pmid= 9428641 |doi=10.1016/S0014-5793(97)01463-4 |s2cid=31851796 |display-authors=etal|doi-access=free }}
- {{cite journal |vauthors=Kure S, Suzuki Y, Matsubara Y |title=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. |journal=Biochem. Biophys. Res. Commun. |volume=248 |issue= 2 |pages= 426–31 |year= 1998 |pmid= 9675154 |doi= 10.1006/bbrc.1998.8985 |display-authors=etal}}
- {{cite journal |vauthors=Pan CJ, Lei KJ, Chou JY |title=Asparagine-linked oligosaccharides are localized to a luminal hydrophilic loop in human glucose-6-phosphatase. |journal=J. Biol. Chem. |volume=273 |issue= 34 |pages= 21658–62 |year= 1998 |pmid= 9705299 |doi=10.1074/jbc.273.34.21658 |doi-access=free }}
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