Description:
GLYCOGEN STORAGE DISEASE II
GLUCOSIDASE, ALPHA, ACID; GAA
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Lysosomal Storage 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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Asiatic Indian
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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, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| alpha-glucosidase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.20; 0% activity. |
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| Gene |
GAA |
| Chromosomal Location |
17q25.2-q25.3 |
| Allelic Variant 1 |
606800.0003; GLYCOGEN STORAGE DISEASE TYPE II, INFANTILE FORM |
| Identified Mutation |
GLU521LYS; In 2 affected children in a consanguineous Indian family, Hermans et al. (1991) found a G-to-A transition in exon 11 of the GAA gene, resulting in substitution of lysine for glutamic acid-521, just 3 amino acids downstream from the catalytic site of the enzyme at asp518. Both affected sibs were homozygous and both parents were heterozygous for the mutant allele. The mutation was introduced into wildtype lysosomal alpha-glucosidase cDNA and the mutant construct was expressed in vitro and in vivo. The substitution proved to account for the abnormal physical properties of the enzyme precursor in the patients and to prevent formation of a catalytically active enzyme.
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| Gene |
GAA |
| Chromosomal Location |
17q25.2-q25.3 |
| Allelic Variant 2 |
606800.0003; GLYCOGEN STORAGE DISEASE TYPE II, INFANTILE FORM |
| Identified Mutation |
GLU521LYS; In 2 affected children in a consanguineous Indian family, Hermans et al. (1991) found a G-to-A transition in exon 11 of the GAA gene, resulting in substitution of lysine for glutamic acid-521, just 3 amino acids downstream from the catalytic site of the enzyme at asp518. Both affected sibs were homozygous and both parents were heterozygous for the mutant allele. The mutation was introduced into wildtype lysosomal alpha-glucosidase cDNA and the mutant construct was expressed in vitro and in vivo. The substitution proved to account for the abnormal physical properties of the enzyme precursor in the patients and to prevent formation of a catalytically active enzyme.
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| Remarks |
Hepatomegaly; cardiomegaly; hypotonia; muscle biopsy showed no detectable acid alpha-1,4 glucosidase, GAA, activity; donor subject is homozygous for a missense mutation caused by a G>A transition at nucleotide 1561 in exon 11 of the GAA gene (1561G>A) which results in the substitution of lysine for glutaminc acid at codon 521 [Glu521Lys (E521K)], three amino acids downstream from the catalytic site of the enzyme at Asp518. |
| dbSNP |
dbSNP ID: 15281 |
| Gene Cards |
GAA |
| Gene Ontology |
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds |
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GO:0004558 alpha-glucosidase activity |
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GO:0005764 lysosome |
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GO:0005975 carbohydrate metabolism |
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GO:0005980 glycogen catabolism |
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GO:0006091 energy pathways |
| NCBI Gene |
Gene ID:2548 |
| NCBI GTR |
232300 GLYCOGEN STORAGE DISEASE II; GSD2 |
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606800 GLUCOSIDASE, ALPHA, ACID; GAA |
| OMIM |
232300 GLYCOGEN STORAGE DISEASE II; GSD2 |
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606800 GLUCOSIDASE, ALPHA, ACID; GAA |
| Omim Description |
ACID MALTASE DEFICIENCY; AMD |
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ALPHA-1,4-GLUCOSIDASE DEFICIENCYGLUCOSIDASE, ALPHA, ACID, INCLUDED; GAA, INCLUDED |
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CARDIAC FORM OF GENERALIZED GLYCOGENOSIS |
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CARDIOMEGALIA GLYCOGENICA DIFFUSA |
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GLUCOSIDASE, ACID, ALPHA DEFICIENCY; GAA DEFICIENCY |
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GLYCOGEN STORAGE DISEASE II |
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POMPE DISEASE |
| Passage Frozen |
8 |
| 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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