| http://purl.uniprot.org/citations/9822626 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9822626 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9822626 | http://www.w3.org/2000/01/rdf-schema#comment | "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 GSD-1b. Furthermore, we isolated and characterized candidate murine and rat GSD-1b cDNAs. Both encode transmembrane proteins sharing 93-95% sequence homology to the human GSD-1b protein. The expression profiles of murine GSD-1b and G6Pase differ both in the liver and in the kidney; the GSD-1b transcript appears before the G6Pase mRNA during development. In addition to G6Pase deficiency, GSD-1b patients suffer neutropenia, neutrophil dysfunction, and recurrent bacterial infections. Interestingly, although the G6Pase mRNA is expressed primarily in the liver, kidney, and intestine, the GSD-1b mRNA is expressed in numerous tissues, including human neutrophils/monocytes."xsd:string |
| http://purl.uniprot.org/citations/9822626 | http://purl.org/dc/terms/identifier | "doi:10.1074/jbc.273.48.31656"xsd:string |
| http://purl.uniprot.org/citations/9822626 | http://purl.org/dc/terms/identifier | "doi:10.1074/jbc.273.48.31656"xsd:string |
| http://purl.uniprot.org/citations/9822626 | http://purl.uniprot.org/core/author | "Lin B."xsd:string |
| http://purl.uniprot.org/citations/9822626 | http://purl.uniprot.org/core/author | "Lin B."xsd:string |
| http://purl.uniprot.org/citations/9822626 | http://purl.uniprot.org/core/author | "Hiraiwa H."xsd:string |
| http://purl.uniprot.org/citations/9822626 | http://purl.uniprot.org/core/author | "Hiraiwa H."xsd:string |
| http://purl.uniprot.org/citations/9822626 | http://purl.uniprot.org/core/author | "Pan C.J."xsd:string |
| http://purl.uniprot.org/citations/9822626 | http://purl.uniprot.org/core/author | "Pan C.J."xsd:string |
| http://purl.uniprot.org/citations/9822626 | http://purl.uniprot.org/core/author | "Chou J.Y."xsd:string |
| http://purl.uniprot.org/citations/9822626 | http://purl.uniprot.org/core/author | "Chou J.Y."xsd:string |
| http://purl.uniprot.org/citations/9822626 | http://purl.uniprot.org/core/author | "Annabi B."xsd:string |
| http://purl.uniprot.org/citations/9822626 | http://purl.uniprot.org/core/author | "Annabi B."xsd:string |
| http://purl.uniprot.org/citations/9822626 | http://purl.uniprot.org/core/date | "1998"xsd:gYear |
| http://purl.uniprot.org/citations/9822626 | http://purl.uniprot.org/core/date | "1998"xsd:gYear |
| http://purl.uniprot.org/citations/9822626 | http://purl.uniprot.org/core/name | "J. Biol. Chem."xsd:string |
| http://purl.uniprot.org/citations/9822626 | http://purl.uniprot.org/core/name | "J Biol Chem"xsd:string |
| http://purl.uniprot.org/citations/9822626 | http://purl.uniprot.org/core/pages | "31656-31660"xsd:string |
| http://purl.uniprot.org/citations/9822626 | http://purl.uniprot.org/core/pages | "31656-31660"xsd:string |
| http://purl.uniprot.org/citations/9822626 | http://purl.uniprot.org/core/title | "Cloning and characterization of cDNAs encoding a candidate glycogen storage disease type 1b protein in rodents."xsd:string |
| http://purl.uniprot.org/citations/9822626 | http://purl.uniprot.org/core/title | "Cloning and characterization of cDNAs encoding a candidate glycogen storage disease type 1b protein in rodents."xsd:string |
| http://purl.uniprot.org/citations/9822626 | http://purl.uniprot.org/core/volume | "273"xsd:string |
| http://purl.uniprot.org/citations/9822626 | http://purl.uniprot.org/core/volume | "273"xsd:string |