Description:
PHOSPHOGLYCERATE KINASE 1 DEFICIENCY
PHOSPHOGLYCERATE KINASE 1; PGK1
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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 |
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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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Race
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Asian
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Ethnicity
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JAPANESE
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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 |
2 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| phophoglycerate kinase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.7.2.3 |
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| phophoglycerate kinase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.7.2.3 |
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| phophoglycerate kinase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.7.2.3; 5% activity. |
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| Gene |
PGK1 |
| Chromosomal Location |
Xq12 |
| Allelic Variant 1 |
311800.0005; PGK MATSUE, NONSPHEROCYTIC HEMOLYTIC ANEMIA DUE TO |
| Identified Mutation |
LEU88PRO; PGK Matsue is an electrophoretic variant associated with severe enzyme deficiency, congenital nonspherocytic anemia, and mental disorders (Miwa et al., 1972). The patient died at age 9 from complications of pneumonia. A cell line from the patient (GM0743) was used by Maeda and Yoshida (1991), who found a T/A-to-C/G transition in exon 3 of the PGK gene. The nucleotide change created an additional NciI cleavage site. The mutation caused substitution of proline for leucine at the 88th position from the NH(2)-terminal serine residue of PGK. Because the leu-to-pro substitution was expected to induce serious perturbation and instability in the protein structure, Maeda and Yoshida (1991) suspected that the severe enzyme deficiency was caused mainly by more rapid in vivo denaturation and degradation of the variant enzyme.
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| Remarks |
Japanese; nonspherocytic hemolytic anemia; cerebral palsy; mentally deficient; decreased muscle and erythrocyte PGK activity; expired at age 9; variant PGK (Matsue); 5% of normal fibroblast PGK activity; normal PGK mRNA level; possible increased rate of PGK degradation |
| Lin YW, Thi DA, Kuo PL, Hsu CC, Huang BD, Yu YH, Vogt PH, Krause W, Ferlin A, Foresta C, Bienvenu T, Schempp W, Yen PH, Polymorphisms associated with the DAZ genes on the human Y chromosome Genomics86:431-8 2005 |
| PubMed ID: 16085382 |
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| Maeda M, Yoshida A, Molecular defect of a phosphoglycerate kinase variant (PGK-Matsue) associated with hemolytic anemia: Leu----Pro substitution caused by T/A----C/G transition in exon 3 Blood77:1348-52 1991 |
| PubMed ID: 2001457 |
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| Tani K, Takizawa T, Yoshida A, Normal mRNA content in a phosphoglycerate kinase variant with severe enzyme deficiency. Am J Hum Genet37:931-7 1985 |
| PubMed ID: 3840329 |
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| Miwa S, Nakashima K, Oda S, Takahashi K, Morooka K, Evidence of the decreased muscle enzyme activity in erythrocyte phosphoglycerate kinase deficiency. Nippon Ketsueki Gakkai Zasshi37:59-62 1974 |
| PubMed ID: 4858637 |
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| Yoshida A, Miwa S, Characterization of a phosphoglycerate kinase variant associated with hemolytic anemia. Am J Hum Genet26:378-84 1974 |
| PubMed ID: 4827366 |
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| Miwa S, Nakashima K, Oda S, Ogawa H, Nagafuji H, Phosphoglycerate kinase (PKG) deficiency hereditary nonspherocytic hemolytic anemia: report of a case found in a Japanese family. Nippon Ketsueki Gakkai Zasshi35:511-4 1972 |
| PubMed ID: 4676843 |
| Passage Frozen |
2 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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