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
GeT-RM Samples |
| 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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1
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Relation to Proband
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proband
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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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| MUTATION VERIFICATION |
The gene mutation(s) in this sample have been verified by 3 laboratories. |
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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; 0% activity. |
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| Gene |
G6PC |
| Chromosomal Location |
17q21 |
| Allelic Variant 1 |
613742.0002; GLYCOGEN STORAGE DISEASE Ia |
| Identified Mutation |
ARG83CYS; A mutation in exon 2 resulting from a C->T transition and a substitution of cyteine for arginine at codon 83. |
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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 |
Type Ia; hepatomegaly; slow growth; absent liver glucose-6-phosphatase activity; occasional episodes of severe hypoglycemia with lactic acidosis; donor subject is a compound heterozygote: one allele has a C>T transition at nucleotide 326 in exon 2 of the G6PC gene [326C>T] resulting in a substitution of cysteine for arginine at codon 83 [Arg83Cys (R83C)] and a second allele has a C>T transition at nucleotide 1118 in exon 5 of the G6PC gene [1118C>T] resulting in a substitution of a termination signal for glutamine at codon 347 [Gln347Ter (Q347X)].
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| Kalman L, Wilson JA, Buller A, Dixon J, Edelmann L, Geller L, Highsmith WE, Holtegaard L, Kornreich R, Rohlfs EM, Payeur TL, Sellers T, Toji L, Muralidharan K, Development of genomic DNA reference materials for genetic testing of disorders common in people of ashkenazi jewish descent The Journal of molecular diagnostics : JMD11:530-6 2009 |
| PubMed ID: 19815695 |
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| 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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