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Isolation of the gene for murine glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1A.
Shelly, L L; Lei, K J; Pan, C J; Sakata, S F; Ruppert, S; Schutz, G; Chou, J Y.
Affiliation
  • Shelly LL; Human Genetics Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892.
J Biol Chem ; 268(29): 21482-5, 1993 Oct 15.
Article in En | MEDLINE | ID: mdl-8407995
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.
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Collection: 01-internacional Database: MEDLINE Main subject: Glycogen Storage Disease Type I / Glucose-6-Phosphatase Limits: Animals / Humans Language: En Journal: J Biol Chem Year: 1993 Document type: Article Country of publication: United States
Search on Google
Collection: 01-internacional Database: MEDLINE Main subject: Glycogen Storage Disease Type I / Glucose-6-Phosphatase Limits: Animals / Humans Language: En Journal: J Biol Chem Year: 1993 Document type: Article Country of publication: United States