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 |
| Class |
Disorders of Lipid Metabolism |
| Alternate IDs |
GM17068 [GAUCHER DISEASE, TYPE II] |
| 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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2
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Relation to Proband
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mother
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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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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227. |
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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). |
| Remarks |
Mexican; clinically unaffected mother of an affected child (GM08752); donor subject has a T>C transition at nucleotide 1448 (1448T>C) in exon 10 of the GBA gene resulting in a substitution at codon 444, Pro for Leu [Leu444Pro (L444P)]; [codons are numbered from the first codon of the mature protein; the cDNA is numbered from the first initiating AUG] |
| Leonard JC, Mullinger AM, Schmidt J, Cordell HJ, Johnson RT, Genome instability in ataxia telangiectasia (A-T) families: camptothecin-induced damage to replicating DNA discriminates between obligate A-T heterozygotes, A-T homozygotes and controls. Biosci Rep24(6):617-29 2004 |
| PubMed ID: 16158199 |
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| Jurevic RJ, Bai M, Chadwick RB, White TC, Dale BA, Single-nucleotide polymorphisms (SNPs) in human beta-defensin 1: high-throughput SNP assays and association with Candida carriage in type I diabetics and nondiabetic controls. J Clin Microbiol41(1):90-6 2003 |
| PubMed ID: 12517831 |
| dbSNP |
dbSNP ID: 11137 |
| 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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