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The molecular basis of the type 1 glycogen storage diseases

✍ Scribed by Ann Burchell

Publisher: John Wiley and Sons
Year: 1992
Tongue: English
Weight: 817 KB
Volume: 14
Category: Article
ISSN: 0265-9247
DOI: 10.1002/bies.950140609

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✦ Synopsis

Microsomal glucose-6-phosphatase catalyses the last step in liver glucose production. Glucose-6-phosphatase deficiency, now termed type 1 glycogen storage disease, was first described almost 40 years ago but until recently very little was known about the molecular basis of the various type 1 glycogen storage diseases. Recently we have shown that at least six different proteins are needed for normal glucose-6-phosphatase activity in liver. Four of the proteins have been purified and three cloned. Study of the type 1 glycogen storage diseases has stimulated investigations of the mechanisms of small molecule transport across the endoplasmie reticulum membrane and demonstrated the existence of novel endoplasmic reticulum transport proteins for glucose and phosphate.

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