| Structural highlights
Disease
G6PC1_HUMAN Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia. The disease is caused by variants affecting the gene represented in this entry.
Function
G6PC1_HUMAN Hydrolyzes glucose-6-phosphate to glucose in the endoplasmic reticulum. Forms with the glucose-6-phosphate transporter (SLC37A4/G6PT) the complex responsible for glucose production in the terminal step of glycogenolysis and gluconeogenesis. Hence, it is the key enzyme in homeostatic regulation of blood glucose levels.[1] [2] [3] [4] [5]
References
- ↑ Weston BW, Lin JL, Muenzer J, Cameron HS, Arnold RR, Seydewitz HH, Mayatepek E, Van Schaftingen E, Veiga-da-Cunha M, Matern D, Chen YT. Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype. Pediatr Res. 2000 Sep;48(3):329-34. PMID:10960498 doi:10.1203/00006450-200009000-00011
- ↑ Ghosh A, Shieh JJ, Pan CJ, Sun MS, Chou JY. The catalytic center of glucose-6-phosphatase. HIS176 is the nucleophile forming the phosphohistidine-enzyme intermediate during catalysis. J Biol Chem. 2002 Sep 6;277(36):32837-42. PMID:12093795 doi:10.1074/jbc.M201853200
- ↑ Angaroni CJ, de Kremer RD, Argaraña CE, Paschini-Capra AE, Giner-Ayala AN, Pezza RJ, Pan CJ, Chou JY. Glycogen storage disease type Ia in Argentina: two novel glucose-6-phosphatase mutations affecting protein stability. Mol Genet Metab. 2004 Nov;83(3):276-9. PMID:15542400 doi:10.1016/j.ymgme.2004.06.010
- ↑ Parvari R, Lei KJ, Bashan N, Hershkovitz E, Korman SH, Barash V, Lerman-Sagie T, Mandel H, Chou JY, Moses SW. Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies. Am J Med Genet. 1997 Oct 31;72(3):286-90. PMID:9332655 doi:<286::aid-ajmg6>3.0.co;2-p 10.1002/(sici)1096-8628(19971031)72:3<286::aid-ajmg6>3.0.co;2-p
- ↑ Pan CJ, Lei KJ, Annabi B, Hemrika W, Chou JY. Transmembrane topology of glucose-6-phosphatase. J Biol Chem. 1998 Mar 13;273(11):6144-8. PMID:9497333 doi:10.1074/jbc.273.11.6144
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