Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c.

@article{Lei1995MutationsIT,
  title={Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c.},
  author={Ke-jian Lei and L L Shelly and Baochuan Lin and James B Sidbury and Yuan Chen and Robert C. Nordlie and Janice Y Chou},
  journal={The Journal of clinical investigation},
  year={1995},
  volume={95 1},
  pages={234-40}
}
Glycogen storage disease (GSD) type 1, which is caused by the deficiency of glucose-6-phosphatase (G6Pase), is an autosomal recessive disease with heterogenous symptoms. Two models of G6Pase catalysis have been proposed to explain the observed heterogeneities. The translocase-catalytic unit model proposes that five GSD type 1 subgroups exist which correspond to defects in the G6Pase catalytic unit (1a), a stabilizing protein (1aSP), the glucose-6-P (1b), phosphate/pyrophosphate (1c), and… CONTINUE READING

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