G6PC
Glucose-6-phosphatase, catalytic subunit (glucose 6-phosphatase alpha) is an enzyme that in humans is encoded by the G6PC gene.[5][6]
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).[6]
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
- GRCh38: Ensembl release 89: ENSG00000131482 - Ensembl, May 2017
- GRCm38: Ensembl release 89: ENSMUSG00000078650 - Ensembl, May 2017
- "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- 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.
- "Entrez Gene: G6PC glucose-6-phosphatase, catalytic subunit".
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. S2CID 1018896.
- 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. S2CID 31684550.
- 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. S2CID 2715249.
- 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. S2CID 19623609.
- 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. S2CID 20473459.
- 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. S2CID 33796000.
- 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. S2CID 2694838.
- 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. S2CID 21218687.
- 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. S2CID 31851796.
- 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.
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