NA10915
DNA from Fibroblast
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 |
| Quantity |
50 µg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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White
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Ethnicity
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ITALIAN
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Relation to Proband
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proband
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Confirmation
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Molecular characterization after cell line submission to CCR
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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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| PDL at Freeze |
5.84 |
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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; 7% activity. |
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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 |
Italian; expired age 7.5; severe hepatosplenomegaly; bilateral sensorineural hearing loss; no other CNS findings; parents 1st cousins; 7% of normal fibroblast B-glucosidase activity; donor subject is homozygous for 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] |
| Kita N, Hamamoto A, B Gowda SG, Takatsu H, Nakayama K, Arita M, Hui SP, Shin HW, Glucosylceramide flippases contribute to cellular glucosylceramide homeostasis Journal of lipid research:100508 2023 |
| PubMed ID: 38280458 |
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| Fog CK, Zago P, Malini E, Solanko LM, Peruzzo P, Bornaes C, Magnoni R, Mehmedbasic A, Petersen NHT, Bembi B, Aerts JFMG, Dardis A, Kirkegaard T, The heat shock protein amplifier arimoclomol improves refolding, maturation and lysosomal activity of glucocerebrosidase EBioMedicine38:142-153 2018 |
| PubMed ID: 30497978 |
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| García-Sanz P, Orgaz L, Bueno-Gil G, Espadas I, Rodríguez-Traver E, Kulisevsky J, Gutierrez A, Dávila JC, González-Polo RA, Fuentes JM, Mir P, Vicario C, Moratalla R, N370S-GBA1 mutation causes lysosomal cholesterol accumulation in Parkinson's disease Movement disorders : official journal of the Movement Disorder Society38:142-153 2017 |
| PubMed ID: 28779532 |
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| Kim SJ, Kang S, Kim JB, Possible therapeutic effects of myxobacterial metabolites on type I Gaucher disease Gene504:156-9 2012 |
| PubMed ID: 22634098 |
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| Lee YJ, Kim SJ, Heo TH, Protective effect of catechin in type I Gaucher disease cells by reducing endoplasmic reticulum stress Biochemical and biophysical research communications413:254-8 2011 |
| PubMed ID: 21884680 |
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| Theophilus B, Latham T, Grabowski GA, Smith FI, Gaucher disease: molecular heterogeneity and phenotype-genotype correlations. Am J Hum Genet45:212-25 1989 |
| PubMed ID: 2502917 |
| dbSNP |
dbSNP ID: 11448 |
| 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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