NA00574
DNA from Fibroblast
Description:
GLYCOGEN STORAGE DISEASE I
GLUCOSE-6-PHOSPHATASE, CATALYTIC; G6PC
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Carbohydrate Metabolism |
| Quantity |
0.050mg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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White
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
8 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227. |
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| Gene |
G6PC |
| Chromosomal Location |
17q21 |
| Allelic Variant 1 |
; GLYCOGEN STORAGE DISEASE Ia; GSD1A |
| Identified Mutation |
Gly222Arg |
| |
| Gene |
G6PC |
| Chromosomal Location |
17q21 |
| Allelic Variant 2 |
613742.0004; GLYCOGEN STORAGE DISEASE Ia |
| Identified Mutation |
GLN347TER; A truncation mutation in exon 5 resulting from a C->T transition and the generation of a stop codon instead of glutamine at codon 347. The predicted Q347X mutant G6Pase is a truncated protein of 346 amino acids, 11 amino acids shorter than the wildtype G6Pase. Site-directed mutagenesis and transient expression assays demonstrated that the mutant protein is devoid of G6Pase activity. |
| Remarks |
Absent hepatic glucose-6-phosphatase |
| Lei KJ, Shelly LL, Lin B, Sidbury JB, Chen YT, Nordlie RC, Chou JY, Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c. J Clin Invest95:234-40 1995 |
| PubMed ID: 7814621 |
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