Molecular Biology
Glucose-6-phosphatase is an enzyme located on the inner membrane of the endoplasmic reticulum. The catalytic unit is associated with a calcium binding protein, and three transport proteins (T1, T2, T3) that facilitate movement of glucose-6-phosphate (G6P), glucose, and phosphate (respectively) into and out of the enzyme.
The most common forms of GSD I are designated GSD Ia and GSD Ib, the former accounting for over 80% of diagnosed cases and the latter for less than 20%. A few rarer forms have been described.
- GSD Ia results from mutations of G6PC, the gene for glucose-6-phosphatase. G6PC is located on chromosome 17q21.
- GSD Ib results from mutations of the gene for SLC37A4 or "G6PT1", the G6P transporter.
- GSD Ic results from mutations of SLC17A3 or SLC37A4.
The metabolic characteristics of GSD Ia and Ib are quite similar, but Ib incurs a few additional problems (described below).
Read more about this topic: Glycogen Storage Disease Type I
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