Description:
GAUCHER DISEASE, TYPE III
GLUCOSIDASE, ACID BETA; GBA
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| 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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Sample Source
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DNA from LCL
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Race
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White
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Family Member
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2
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Relation to Proband
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parent
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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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| Remarks |
Father of a Juvenile Gaucher; low-normal acid B-glucosidase; proband not in Repository; spouse of GM01030; the donor has a splicing mutation in IVS2 at the +1 nucleotide in the GBA gene (IVS2+1G>A) resulting in destruction of the consensus donor site for GBA mRNA splicing and the skipping of exon 2 (codons are numbered from the first codon of the mature protein; the cDNA is numbered from the first initiating AUG) |
| Gene Cards |
GBA |
| Gene Ontology |
GO:0004348 glucosylceramidase activity |
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GO:0005764 lysosome |
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GO:0005975 carbohydrate metabolism |
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GO:0006665 sphingolipid metabolism |
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GO:0007040 lysosome organization and biogenesis |
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GO:0016020 membrane |
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GO:0016798 hydrolase activity, acting on glycosyl bonds |
| NCBI Gene |
Gene ID:2629 |
| NCBI GTR |
231000 GAUCHER DISEASE, TYPE III; GD3 |
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606463 GLUCOSIDASE, BETA, ACID; GBA |
| OMIM |
231000 GAUCHER DISEASE, TYPE III; GD3 |
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606463 GLUCOSIDASE, BETA, ACID; GBA |
| Omim Description |
GAUCHER DISEASE, CHRONIC NEURONOPATHIC TYPE |
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GAUCHER DISEASE, JUVENILE AND ADULT, CEREBRAL |
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GAUCHER DISEASE, SUBACUTE NEURONOPATHIC TYPEGAUCHER DISEASE, NORRBOTTNIAN TYPE, INCLUDED |
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GAUCHER DISEASE, TYPE III |
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GD III |
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NORRBOTTNIAN GAUCHER DISEASE, INCLUDED |
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