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 |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Family Member
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2
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Relation to Proband
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sister
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Confirmation
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Molecular characterization after cell line submission to CCR
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227. |
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| glucose-6-phosphatase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.1.3.9 |
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| Gene |
G6PC |
| Chromosomal Location |
17q21 |
| Allelic Variant 1 |
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. |
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| 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 |
Hypoglycemia; hepatomegaly; deficient hepatic glucose-6-phosphatase activity; G6Pase (G6PC) genotype is [Gln347Ter (Q347X)]/[Gln347Ter (Q347X)] |
| Lei KJ, Pan CJ, Shelly LL, Liu JL, Chou JY, Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a. J Clin Invest93:1994-9 1994 |
| PubMed ID: 8182131 |
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| Chen YT, Coleman RA, Scheinman JI, Kolbeck PC, Sidbury JB, Renal disease in type I glycogen storage disease. N Engl J Med318:7-11 1988 |
| PubMed ID: 3422104 |
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