G6PC

Glucose-6-phosphatase, catalytic subunit
Identifiers
Symbols	G6PC ; G6PT; GSD1a; MGC163350
External IDs	Template:OMIM5 Template:MGI HomoloGene: 20079
Gene ontology Molecular function Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Glucose-6-phosphatase, catalytic subunit, also known as G6PC, is a human 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).

Further reading

• Barham SS, Berlin JD, Brackeen RB (1976). "The fine structural localization of testicular phosphatases in man: the control testis". Cell Tissue Res. 166 (4): 497–510. PMID 175958.CS1 maint: Multiple names: authors list (link)
• Narisawa K, Igarashi Y, Otomo H, Tada K (1978). "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. PMID 212064.CS1 maint: Multiple names: authors list (link)
• Burchell A, Waddell ID (1990). "Diagnosis of a novel glycogen storage disease: type 1aSP". J. Inherit. Metab. Dis. 13 (3): 247–9. PMID 2172641.
• Hill A, Waddell ID, Hopwood D, Burchell A (1989). "The microsomal glucose-6-phosphatase enzyme of human gall-bladder". J. Pathol. 158 (1): 53–6. doi:10.1002/path.1711580111. PMID 2547044.CS1 maint: Multiple names: authors list (link)
• Sacks W, Cowburn D, Bigler RE; et al. (1985). "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. PMID 2986020.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Lei KJ, Chen YT, Chen H; et al. (1995). "Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus". Am. J. Hum. Genet. 57 (4): 766–71. PMID 7573034.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Parvari R, Moses S, Hershkovitz E; et al. (1995). "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. PMID 7623438.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hwu WL, Chuang SC, Tsai LP; et al. (1995). "Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type Ia". Hum. Mol. Genet. 4 (6): 1095–6. PMID 7655466.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kajihara S, Matsuhashi S, Yamamoto K; et al. (1995). "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. PMID 7668282.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Brody LC, Abel KJ, Castilla LH; et al. (1995). "Construction of a transcription map surrounding the BRCA1 locus of human chromosome 17". Genomics. 25 (1): 238–47. PMID 7774924.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Lei KJ, Pan CJ, Shelly LL; et al. (1994). "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. PMID 8182131.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Lei KJ, Shelly LL, Pan CJ; et al. (1993). "Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a". Science. 262 (5133): 580–3. PMID 8211187.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Schmoll D, Allan BB, Burchell A (1996). "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. PMID 8612793.CS1 maint: Multiple names: authors list (link)
• Lei KJ, Chen H, Pan CJ; et al. (1996). "Glucose-6-phosphatase dependent substrate transport in the glycogen storage disease type-1a mouse". Nat. Genet. 13 (2): 203–9. doi:10.1038/ng0696-203. PMID 8640227.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Chevalier-Porst F, Bozon D, Bonardot AM; et al. (1996). "Mutation analysis in 24 French patients with glycogen storage disease type 1a". J. Med. Genet. 33 (5): 358–60. PMID 8733042.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Lee WJ, Lee HM, Chi CS; et al. (1997). "Genetic analysis of the glucose-6-phosphatase mutation of type 1a glycogen storage disease in a Chinese family". Clin. Genet. 50 (4): 206–11. PMID 9001800.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Parvari R, Lei KJ, Bashan N; et al. (1997). "Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies". Am. J. Med. Genet. 72 (3): 286–90. PMID 9332655.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gerin I, Veiga-da-Cunha M, Achouri Y; et al. (1998). "Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib". FEBS Lett. 419 (2–3): 235–8. PMID 9428641.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kure S, Suzuki Y, Matsubara Y; et al. (1998). "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. doi:10.1006/bbrc.1998.8985. PMID 9675154.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Pan CJ, Lei KJ, Chou JY (1998). "Asparagine-linked oligosaccharides are localized to a luminal hydrophilic loop in human glucose-6-phosphatase". J. Biol. Chem. 273 (34): 21658–62. PMID 9705299.CS1 maint: Multiple names: authors list (link)