Description:
GAUCHER DISEASE, TYPE II
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
GeT-RM Samples |
| 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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Ethnicity
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MEXICAN
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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 MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227. |
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| MUTATION VERIFICATION |
The gene mutation(s) in this sample have been verified by 6 laboratories. |
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| glucosylceramidase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.45 |
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| Gene |
GBA |
| Chromosomal Location |
1q21 |
| Allelic Variant 1 |
606463.0001; GAUCHER DISEASE, NEURONOPATHIC |
| Identified Mutation |
LEU483PRO (LEU444PRO), 1448T>C; The leu444-to-pro (L444P) substitution in exon 10 of the GBA gene has been reported as resulting from a 1448T-C transition (Zimran et al., 1989) and from a 6433T-C transition (Latham et al., 1990), depending upon the reference sequence cited. This mutation has alternatively been referred to as LEU483PRO (Saranjam et al., 2013). |
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| Gene |
GBA |
| Chromosomal Location |
1q21 |
| Allelic Variant 2 |
606463.0001; GAUCHER DISEASE, NEURONOPATHIC |
| Identified Mutation |
LEU483PRO (LEU444PRO), 1448T>C; The leu444-to-pro (L444P) substitution in exon 10 of the GBA gene has been reported as resulting from a 1448T-C transition (Zimran et al., 1989) and from a 6433T-C transition (Latham et al., 1990), depending upon the reference sequence cited. This mutation has alternatively been referred to as LEU483PRO (Saranjam et al., 2013). |
| Remarks |
Mexican; classic presentation with marked hepatosplenomegaly, retroflexion of head, strabismus, dysphagia, and hypertonicity; WBC show deficient glucocerebrosidase activity; donor subject is homozygous for a mutation in the GBA gene: c.1448T>C, p. Leu483Pro (or L444P). Negative for Bloom and Niemann-Pick diseases; see GM08760 Fibroblast.
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| Li Z, Li T, Dai S, Xie X, Ma X, Zhao W, Zhang W, Li J, Wang PG, New insights into the pharmacological chaperone activity of c2-substituted glucoimidazoles for the treatment of Gaucher disease Chembiochem : a European journal of chemical biology14:1239-47 2013 |
| PubMed ID: 23775891 |
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| Kalman L, Wilson JA, Buller A, Dixon J, Edelmann L, Geller L, Highsmith WE, Holtegaard L, Kornreich R, Rohlfs EM, Payeur TL, Sellers T, Toji L, Muralidharan K, Development of genomic DNA reference materials for genetic testing of disorders common in people of ashkenazi jewish descent The Journal of molecular diagnostics : JMD11:530-6 2009 |
| PubMed ID: 19815695 |
| dbSNP |
dbSNP ID: 11136 |
| 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 |
230900 GAUCHER DISEASE, TYPE II; GD2 |
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606463 GLUCOSIDASE, BETA, ACID; GBA |
| OMIM |
230900 GAUCHER DISEASE, TYPE II; GD2 |
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606463 GLUCOSIDASE, BETA, ACID; GBA |
| Omim Description |
GAUCHER DISEASE, ACUTE NEURONOPATHIC TYPE |
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GAUCHER DISEASE, INFANTILE CEREBRAL |
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GAUCHER DISEASE, TYPE II |
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GD II |
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