Description:
FABRY DISEASE
GALACTOSIDASE, ALPHA; GLA
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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 Lipid 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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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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ISCN
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46,XY
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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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|
| alpha-galactosidase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.22; 0% activity. |
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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 |
GLA |
| Chromosomal Location |
Xq22 |
| Allelic Variant 1 |
300644.0018; FABRY DISEASE |
| Identified Mutation |
ASN215SER; Eng et al. (1993) and Davies et al. (1993) have described an AAT-to-AGT mutation at codon 215 of exon 5 resulting in an asn215-to-ser substitution. The patients had mild forms of Fabry disease.
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| Remarks |
Cardiac variant; mild clinical manifestations; residual alpha-galactosidase A activity in fibroblasts and WBC; no activity in plasma; 46,XY; donor subject is hemizygous for an A>G transition in exon 5 of the GLA gene (AAT>AGT) resulting in the substitution of serine for asparagine at codon 215 [Asn215Ser (N215S)] |
| Li HY, Lin HY, Chang SK, Chiu YT, Hou CC, Ko TP, Huang KF, Niu DM, Cheng WC, Mechanistic Insights into Dibasic Iminosugars as pH-Selective Pharmacological Chaperones to Stabilize Human a-Galactosidase JACS Au4:908-918 2024 |
| PubMed ID: 38559739 |
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