The catalytic moiety of the glucose-6-phosphatase system: the gene and protein and related mutations

摘要

This invention relates to nucleic acid sequences and methods useful for producing recombinant glucose-6-phosphate (G-6-Pase). In addition, the invention relates to specific mutations in the gene encoding human G-6-Pase and methods for detecting the mutations and thus diagnosing the genetic disease that causes glycogen storage disease type 1A.