| First Author | Shelly LL | Year | 1993 |
| Journal | J Biol Chem | Volume | 268 |
| Issue | 29 | Pages | 21482-5 |
| PubMed ID | 8407995 | Mgi Jnum | J:15150 |
| Mgi Id | MGI:63286 | Doi | 10.1016/s0021-9258(20)80563-8 |
| Citation | Shelly LL, et al. (1993) Isolation of the gene for murine glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1A. J Biol Chem 268(29):21482-5 |
| abstractText | Glycogen storage disease (GSD) type 1a (von Gierke disease) is caused by a deficiency in glucose-6-phosphatase, the key enzyme in glucose homeostasis catalyzing the terminal step in gluconeogenesis and glycogenolysis. Despite its clinical importance, this membrane-bound enzyme has eluded molecular characterization. Here we report the cloning and characterization of a murine glucose-6-phosphatase cDNA by screening a mouse liver cDNA library differentially with mRNA populations representing the normal and the albino deletion mouse known to express markedly reduced glucose-6-phosphatase activity. Additionally, we identified the gene that consists of 5 exons. Biochemical analyses indicate that the in vitro expressed enzyme is indistinguishable from mouse liver microsomal glucose-6-phosphatase exhibiting essentially identical kinetic constants, latency, thermal lability, and vanadate sensitivity. The characterization of the murine glucose-6-phosphatase gene opens the way for studying the molecular basis of GSD type 1a in humans and its etiology in an animal model. |
