Description:
GAUCHER DISEASE, TYPE I
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 |
| Class |
Disorders of Lipid Metabolism |
| Alternate IDs |
GM17368 [GAUCHER DISEASE, TYPE I] |
| 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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ASHKENAZI
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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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| 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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| glucosylceramidase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.45; 14% activity. |
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| Gene |
GBA |
| Chromosomal Location |
1q21 |
| Allelic Variant 1 |
606463.0003; GAUCHER DISEASE, TYPE I |
| Identified Mutation |
ASN370SER; By nucleotide sequence analysis of a genomic clone from an Ashkenazi Jewish patient with type I, Tsuji et al. [Proc. Nat. Acad. Sci. 85: 2349-2352 (1988] found a single-base mutation (adenosine to guanosine transition) in exon 9 of the glucocerebrosidase gene. This change resulted in the amino acid substitution of serine for asparagine. Transient expression studies following oligonucleotide-directed mutagenesis of the normal cDNA confirmed that the mutation results in loss of glucocerebrosidase activity. This mutation [1226G (N370S)] accounts for approximately 70% of mutations in the Jewish population. |
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| Gene |
GBA |
| Chromosomal Location |
1q21 |
| Allelic Variant 2 |
606463.0003; GAUCHER DISEASE, TYPE I |
| Identified Mutation |
ASN370SER; By nucleotide sequence analysis of a genomic clone from an Ashkenazi Jewish patient with type I, Tsuji et al. [Proc. Nat. Acad. Sci. 85: 2349-2352 (1988] found a single-base mutation (adenosine to guanosine transition) in exon 9 of the glucocerebrosidase gene. This change resulted in the amino acid substitution of serine for asparagine. Transient expression studies following oligonucleotide-directed mutagenesis of the normal cDNA confirmed that the mutation results in loss of glucocerebrosidase activity. This mutation [1226G (N370S)] accounts for approximately 70% of mutations in the Jewish population. |
| Remarks |
Ashkenazi; mild splenomegaly; 2 affected siblings; about 14% of normal lymph culture acid B-glucosidase activity; donor subject is homozygous for an A>G transition at nucleotide 1226 in exon 9 of the GBA gene (1226A>G) resulting in a substitution of serine for asparagine at codon 370 [Asn370Ser (N370S)] [codons are numbered from the first codon of the mature protein; the cDNA is numbered from the first initiating AUG] |
| 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 |
| dbSNP |
dbSNP ID: 11440 |
| 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 |
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Gene ID:2630 |
| NCBI GTR |
230800 GAUCHER DISEASE, TYPE I; GD1 |
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606463 GLUCOSIDASE, BETA, ACID; GBA |
| OMIM |
230800 GAUCHER DISEASE, TYPE I; GD1 |
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606463 GLUCOSIDASE, BETA, ACID; GBA |
| Omim Description |
ACID BETA-GLUCOSIDASE DEFICIENCY |
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GAUCHER DISEASE, NONCEREBRAL JUVENILE |
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GAUCHER DISEASE, TYPE I |
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GBA DEFICIENCYGLUCOSIDASE, ACID BETA, INCLUDED; GBA, INCLUDED |
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GD I |
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GLUCOCEREBROSIDASE DEFICIENCY |
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GLUCOCEREBROSIDASE PSEUDOGENE, INCLUDED; GBAP, INCLUDED |
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