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 |
| 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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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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Biochemical characterization - other
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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 |
GAA |
| Chromosomal Location |
17q25.2-q25.3 |
| Allelic Variant 1 |
606800.0002; GLYCOGEN STORAGE DISEASE TYPE II, INFANTILE FORM |
| Identified Mutation |
MET318THR; In a case of infantile-onset glycogen storage disease type II (cell line GM00244), Zhong et al. [Am J Hum Genet 49:635 (1991)] found a T-to-C transition at nucleotide 953 of the GAA gene, which predicted a methionine-to-threonine subsitution at residue 318 of the enzyme. This missense mutation was not detected in 37 additional GAA-deficient chromosomes. The patient was a genetic compound with the second allele expressing almost no mRNA. |
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| Gene |
GAA |
| Chromosomal Location |
17q25.2-q25.3 |
| Allelic Variant 1 |
W746S; GLYCOGEN STORAGE DISEASE TYPE II |
| Identified Mutation |
TRP746SER |
| Remarks |
Clinically affected; only 5% of acid maltase activity; son of father who is heterozygous for a T>C transition at nucleotide 953 in exon 5 of the GAA gene (c.953T>C) resulting in the substitution of threonine for methionine at codon 318 [Met318Thr (M318T)] and a mother who is heterozygous for a G>C transversion at nucleotide 2237 in exon 16 of the GAA gene (c.2237G>C) resulting in the substitution of serine for tryptophan at codon 746 [Trp746Ser (W746S)]; this subject has not been analyzed as yet; cross-reactive immunological material (CRIM)-positive status confirmed by Western blot and GAA sequencing analyses(PMID:24044919). |
| Z. Wang, et al, A new assay for fast, reliable CRIM status determination in infantile-onset Pompe disease. Mol Genet Metab. 2013 Aug 29. pii: S1096-7192(13)00300-4. doi: 10.1016/j.ymgme.2013.08.010. [Epub ahead of print]: 2013 |
| PubMed ID: 24044919 |
| 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 |
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