[HTML][HTML] Cloning and characterization of cDNAs encoding a candidate glycogen storage disease type 1b protein in rodents
Glycogen storage disease type 1 (GSD-1) is a group of genetic disorders caused by a
deficiency in the activity of the enzyme glucose-6-phosphatase.(G6Pase). GSD-1a and GSD-
1b, the two major subgroups, have been confirmed at the molecular genetic level. The gene
responsible for GSD-1b maps to human chromosome 11q23 and a candidate human GSD-
1b cDNA that encodes a microsomal transmembrane protein has been identified. In this
study, we show that this cDNA maps to chromosome 11q23; thus it is a strong candidate for …
deficiency in the activity of the enzyme glucose-6-phosphatase.(G6Pase). GSD-1a and GSD-
1b, the two major subgroups, have been confirmed at the molecular genetic level. The gene
responsible for GSD-1b maps to human chromosome 11q23 and a candidate human GSD-
1b cDNA that encodes a microsomal transmembrane protein has been identified. In this
study, we show that this cDNA maps to chromosome 11q23; thus it is a strong candidate for …