Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
G6PC
Introduction
Glucose-6-phosphatase, catalytic subunit (glucose 6-phosphatase alpha) is an enzyme that in humans is encoded by the G6PC gene.[1][2]
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).[2]
Interactive pathway map
Interactive pathway map
Click on genes, proteins and metabolites below to link to respective articles. [§ 1]
Glycolysis and Gluconeogenesis edit
- ↑ The interactive pathway map can be edited at WikiPathways: “GlycolysisGluconeogenesis_WP534”.
References
References
- ↑ Brody LC, Abel KJ, Castilla LH, Couch FJ, McKinley DR, Yin G, Ho PP, Merajver S, Chandrasekharappa SC, Xu J, et al. (Jul 1995). “Construction of a transcription map surrounding the BRCA1 locus of human chromosome 17”. Genomics. 25 (1): 238–47. doi:10.1016/0888-7543(95)80131-5. PMID 7774924.
- ↑ 2.0 2.1 “Entrez Gene: G6PC glucose-6-phosphatase, catalytic subunit”.
Further reading
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. doi:10.1007/BF00225914. PMID 175958.
- 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. doi:10.1016/0006-291X(78)91371-2. PMID 212064.
- Burchell A, Waddell ID (1990). “Diagnosis of a novel glycogen storage disease: type 1aSP”. J. Inherit. Metab. Dis. 13 (3): 247–9. doi:10.1007/BF01799362. 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.
- 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. doi:10.1007/BF00964568. PMID 2986020.
- 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. PMC 1801521. PMID 7573034.
- 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. doi:10.1007/BF00711368. PMID 7623438.
- 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. doi:10.1093/hmg/4.6.1095. PMID 7655466.
- 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. PMC 1801279. PMID 7668282.
- 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. doi:10.1172/JCI117192. PMC 294308. PMID 8182131.
- 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. doi:10.1126/science.8211187. PMID 8211187.
- 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. doi:10.1016/0014-5793(96)00224-4. PMID 8612793.
- 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.
- 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. doi:10.1136/jmg.33.5.358. PMC 1050601. PMID 8733042.
- 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. doi:10.1111/j.1399-0004.1996.tb02627.x. PMID 9001800.
- 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. doi:10.1002/(SICI)1096-8628(19971031)72:3<286::AID-AJMG6>3.0.CO;2-P. PMID 9332655.
- 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. doi:10.1016/S0014-5793(97)01463-4. PMID 9428641.
- 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.
- 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. doi:10.1074/jbc.273.34.21658. PMID 9705299.