Description:
GLYCOGEN STORAGE DISEASE III
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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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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 |
7 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| amylo-alpha-1,6-glucosidase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.33 |
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| Remarks |
Deficient debrancher enzyme activity |
| dbSNP |
dbSNP ID: 17523 |
| Gene Ontology |
GO:0004134 4-alpha-glucanotransferase activity |
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GO:0004135 amylo-alpha-1,6-glucosidase activity |
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GO:0005975 carbohydrate metabolism |
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GO:0005978 glycogen biosynthesis |
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GO:0016757 transferase activity, transferring glycosyl groups |
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GO:0016798 hydrolase activity, acting on glycosyl bonds |
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GO:0043033 isoamylase complex |
| NCBI Gene |
Gene ID:178 |
| NCBI GTR |
232400 GLYCOGEN STORAGE DISEASE III; GSD3 |
| OMIM |
232400 GLYCOGEN STORAGE DISEASE III; GSD3 |
| Omim Description |
AMYLO-1,6-GLUCOSIDASE DEFICIENCY; AGL DEFICIENCY |
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CORI DISEASE |
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FORBES DISEASE |
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GLYCOGEN DEBRANCHER DEFICIENCY; GDE DEFICIENCY |
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GLYCOGEN DEBRANCHER ENZYME, INCLUDED; GDE, INCLUDED |
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GLYCOGEN DEBRANCHING DEFICIENCYAMYLO-1,6-GLUCOSIDASE, 4-ALPHA-GLUCANOTRANSFERASE, INCLUDED; AGL,INCLUDED |
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GLYCOGEN STORAGE DISEASE III |
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LIMIT DEXTRINOSIS |
| Passage Frozen |
7 |
| 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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