Description:
FUCOSIDOSIS
FUCOSIDASE, ALPHA-L, 1; FUCA1
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Carbohydrate Metabolism |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Biochemical characterization after cell line submission to CCR
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227. |
| |
| alpha-L-fucosidase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.51 |
| |
| 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.
|
| |
| 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.
|
| Remarks |
See GM00292 Fibroblast; deficient AlphaL-Fucosidase; Type 2; similarly affected sib |
| 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 |
| |
| 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 |
| |
| 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: 10377 |
| Gene Cards |
FUCA1 |
| Gene Ontology |
GO:0004560 alpha-L-fucosidase activity |
|
GO:0005737 cytoplasm |
|
GO:0005764 lysosome |
|
GO:0005975 carbohydrate metabolism |
|
GO:0006027 glycosaminoglycan catabolism |
|
GO:0016798 hydrolase activity, acting on glycosyl bonds |
| NCBI Gene |
Gene ID:2517 |
| NCBI GTR |
230000 FUCOSIDOSIS |
|
612280 FUCOSIDASE, ALPHA-L, 1; FUCA1 |
| OMIM |
230000 FUCOSIDOSIS |
|
612280 FUCOSIDASE, ALPHA-L, 1; FUCA1 |
| Omim Description |
ALPHA-L-FUCOSIDASE 1, INCLUDED |
| |
ALPHA-L-FUCOSIDASE DEFICIENCYFUCOSIDASE, ALPHA-L, 1, INCLUDED; FUCA1, INCLUDED |
| |
FUCOSIDASE, ALPHA-L, TISSUE, INCLUDED; FUCA, INCLUDED |
| |
FUCOSIDOSIS |
|