G6PC
Le glucose-6-phosphatase, sous-unité catalytique (glucose-6-phosphatase alpha) est une enzyme qui, chez l'être humain, est codée par le gène G6PC[5],[6].
La glucose-6-phosphatase est une protéine membranaire intégrale du réticulum endoplasmique qui catalyse l'hydrolyse du D-glucose-6-phosphate en D-glucose et en orthophosphate. C'est une enzyme clé de l'homéostasie du glucose, qui intervient dans la néoglucogenèse et la glycogénolyse. Des anomalies de cette enzyme sont à l'origine de la glycogénose type 1 (maladie de von Gierke)[6].
Voir aussi
Références
(en) Cet article est partiellement ou en totalité issu de l’article de Wikipédia en anglais intitulé « G6PC » (voir la liste des auteurs).
- GRCh38: Ensembl release 89: ENSG00000131482 - Ensembl, May 2017
- GRCm38: Ensembl release 89: ENSMUSG00000078650 - Ensembl, May 2017
- ↑ « Publications PubMed pour l'Homme », sur National Center for Biotechnology Information, U.S. National Library of Medicine
- ↑ « Publications PubMed pour la Souris », sur 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, « Construction of a transcription map surrounding the BRCA1 locus of human chromosome 17 », Genomics, vol. 25, no 1, , p. 238–47 (PMID 7774924, DOI 10.1016/0888-7543(95)80131-5, lire en ligne)
- « Entrez Gene: G6PC glucose-6-phosphatase, catalytic subunit »
Bibliographie
- Barham SS, Berlin JD, Brackeen RB, « The fine structural localization of testicular phosphatases in man: the control testis. », Cell Tissue Res., vol. 166, no 4, , p. 497–510 (PMID 175958, DOI 10.1007/BF00225914, S2CID 1018896)
- Narisawa K, Igarashi Y, Otomo H, Tada K, « 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., vol. 83, no 4, , p. 1360–4 (PMID 212064, DOI 10.1016/0006-291X(78)91371-2)
- Burchell A, Waddell ID, « Diagnosis of a novel glycogen storage disease: type 1aSP. », J. Inherit. Metab. Dis., vol. 13, no 3, , p. 247–9 (PMID 2172641, DOI 10.1007/BF01799362, S2CID 31684550)
- Hill A, Waddell ID, Hopwood D, Burchell A, « The microsomal glucose-6-phosphatase enzyme of human gall-bladder. », J. Pathol., vol. 158, no 1, , p. 53–6 (PMID 2547044, DOI 10.1002/path.1711580111, S2CID 2715249)
- Sacks W, Cowburn D, Bigler RE, « 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., vol. 10, no 2, , p. 201–27 (PMID 2986020, DOI 10.1007/BF00964568, S2CID 19623609)
- Lei KJ, Chen YT, Chen H, « Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus. », Am. J. Hum. Genet., vol. 57, no 4, , p. 766–71 (PMID 7573034, PMCID 1801521)
- Parvari R, Moses S, Hershkovitz E, « 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., vol. 18, no 1, , p. 21–7 (PMID 7623438, DOI 10.1007/BF00711368, S2CID 20473459)
- Hwu WL, Chuang SC, Tsai LP, « Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type Ia. », Hum. Mol. Genet., vol. 4, no 6, , p. 1095–6 (PMID 7655466, DOI 10.1093/hmg/4.6.1095)
- Kajihara S, Matsuhashi S, Yamamoto K, « 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., vol. 57, no 3, , p. 549–55 (PMID 7668282, PMCID 1801279)
- Lei KJ, Pan CJ, Shelly LL, « Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a. », J. Clin. Invest., vol. 93, no 5, , p. 1994–9 (PMID 8182131, PMCID 294308, DOI 10.1172/JCI117192)
- Lei KJ, Shelly LL, Pan CJ, « Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a. », Science, vol. 262, no 5133, , p. 580–3 (PMID 8211187, DOI 10.1126/science.8211187, Bibcode 1993Sci...262..580L, lire en ligne)
- Schmoll D, Allan BB, Burchell A, « 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., vol. 383, nos 1–2, , p. 63–6 (PMID 8612793, DOI 10.1016/0014-5793(96)00224-4, S2CID 33796000)
- Lei KJ, Chen H, Pan CJ, « Glucose-6-phosphatase dependent substrate transport in the glycogen storage disease type-1a mouse. », Nat. Genet., vol. 13, no 2, , p. 203–9 (PMID 8640227, DOI 10.1038/ng0696-203, S2CID 2694838, lire en ligne)
- Chevalier-Porst F, Bozon D, Bonardot AM, « Mutation analysis in 24 French patients with glycogen storage disease type 1a. », J. Med. Genet., vol. 33, no 5, , p. 358–60 (PMID 8733042, PMCID 1050601, DOI 10.1136/jmg.33.5.358)
- Lee WJ, Lee HM, Chi CS, « Genetic analysis of the glucose-6-phosphatase mutation of type 1a glycogen storage disease in a Chinese family. », Clin. Genet., vol. 50, no 4, , p. 206–11 (PMID 9001800, DOI 10.1111/j.1399-0004.1996.tb02627.x, S2CID 21218687)
- Parvari R, Lei KJ, Bashan N, « Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies. », Am. J. Med. Genet., vol. 72, no 3, , p. 286–90 (PMID 9332655, DOI 10.1002/(SICI)1096-8628(19971031)72:3<286::AID-AJMG6>3.0.CO;2-P, lire en ligne)
- Gerin I, Veiga-da-Cunha M, Achouri Y, « Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib. », FEBS Lett., vol. 419, nos 2–3, , p. 235–8 (PMID 9428641, DOI 10.1016/S0014-5793(97)01463-4, S2CID 31851796)
- Kure S, Suzuki Y, Matsubara Y, « 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., vol. 248, no 2, , p. 426–31 (PMID 9675154, DOI 10.1006/bbrc.1998.8985)
- Pan CJ, Lei KJ, Chou JY, « Asparagine-linked oligosaccharides are localized to a luminal hydrophilic loop in human glucose-6-phosphatase. », J. Biol. Chem., vol. 273, no 34, , p. 21658–62 (PMID 9705299, DOI 10.1074/jbc.273.34.21658)
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