GM01024
LCL from B-Lymphocyte
Description:
FUCOSIDOSIS
FUCOSIDASE, ALPHA-L, 1; FUCA1
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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 Carbohydrate Metabolism |
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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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LCL from B-Lymphocyte
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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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brother
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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 Isoenzyme Electrophoresis |
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| alpha-L-fucosidase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.51 |
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| Gene |
FUCA1 |
| Chromosomal Location |
1p34 |
| Allelic Variant 1 |
612280.0005; FUCOSIDOSIS |
| Identified Mutation |
c.244C>T (p.Gln82Ter); By PCR amplification and sequencing of all 8 exons of the FUCA1 gene, Seo et al. (1993) identified 6 mutations thought to be responsible for fucosidosis. In 2 Jewish-Italian sibs, they found compound heterozygosity, one mutation being a C-to-T transition causing a gln77-to-ter change (Q77X) in exon 1.
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| Gene |
FUCA1 |
| Chromosomal Location |
1p34 |
| Allelic Variant 2 |
612280.0001; FUCOSIDOSIS |
| Identified Mutation |
c.1279C>T (p.Gln427Ter); In about 20% of families with fucosidosis, Southern blot analysis demonstrates that a single EcoRI restriction site in the open reading frame of the FUCA1 gene is obliterated. Kretz et al. (1989) demonstrated that the loss of the EcoRI site is determined by a C-to-T transition which results in the generation of an in-frame TAA stop codon 120-bp upstream of the normal stop codon.
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| Remarks |
Type 2; see GM00291 Fibroblast; deficient Alpha-L-Fucosidase |
| Yang M, Allen H, DiCioccio RA, Pedigree analysis of alpha-L-fucosidase gene mutations in a fucosidosis family. Biochim Biophys Acta1182:245-9 1993 |
| PubMed ID: 8399358 |
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| DiCioccio RA, Darby JK, Willems PJ, Abnormal expression of alpha-L-fucosidase in lymphoid cell lines of fucosidosis patients. Biochem Genet27:279-90 1989 |
| PubMed ID: 2803224 |
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| Kretz KA, Darby JK, Willems PJ, O'Brien JS, Characterization of EcoRI mutation in fucosidosis patients: a stop codon in the open reading frame Journal of molecular neuroscience : MN1:177-80 1989 |
| PubMed ID: 2642067 |
| dbSNP |
dbSNP ID: 22095 |
| Gene Cards |
FUCA1 |
| Gene Ontology |
GO:0004560 alpha-L-fucosidase activity |
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GO:0005737 cytoplasm |
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GO:0005764 lysosome |
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GO:0005975 carbohydrate metabolism |
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GO:0006027 glycosaminoglycan catabolism |
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GO:0016798 hydrolase activity, acting on glycosyl bonds |
| NCBI Gene |
Gene ID:2517 |
| NCBI GTR |
230000 FUCOSIDOSIS |
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612280 FUCOSIDASE, ALPHA-L, 1; FUCA1 |
| OMIM |
230000 FUCOSIDOSIS |
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612280 FUCOSIDASE, ALPHA-L, 1; FUCA1 |
| Omim Description |
ALPHA-L-FUCOSIDASE 1, INCLUDED |
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ALPHA-L-FUCOSIDASE DEFICIENCYFUCOSIDASE, ALPHA-L, 1, INCLUDED; FUCA1, INCLUDED |
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FUCOSIDASE, ALPHA-L, TISSUE, INCLUDED; FUCA, INCLUDED |
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FUCOSIDOSIS |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
20% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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