Fucosidase
| Fucosidase, alpha-L- 1, tissue | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||
| Symbols | FUCA1 ; FUCA | ||||||||||||
| External IDs | OMIM: 612280 MGI: 95593 HomoloGene: 20078 ChEMBL: 4176 GeneCards: FUCA1 Gene | ||||||||||||
| EC number | 3.2.1.51 | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| More reference expression data | |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 2517 | 71665 | |||||||||||
| Ensembl | ENSG00000179163 | ENSMUSG00000028673 | |||||||||||
| UniProt | P04066 | Q99LJ1 | |||||||||||
| RefSeq (mRNA) | NM_000147 | NM_024243 | |||||||||||
| RefSeq (protein) | NP_000138 | NP_077205 | |||||||||||
| Location (UCSC) |
Chr 1: 23.85 – 23.87 Mb |
Chr 4: 135.92 – 135.94 Mb | |||||||||||
| PubMed search | |||||||||||||
Tissue alpha-L-fucosidase is an enzyme that in humans is encoded by the FUCA1 gene.[1][2]
Alpha-Fucosidase is an enzyme that breaks down fucose.[3]
Fucosidosis is an autosomal recessive lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues. Different phenotypes include clinical features such as neurologic deterioration, growth retardation, visceromegaly, and seizures in a severe early form; coarse facial features, angiokeratoma corporis diffusum, spasticity and delayed psychomotor development in a longer surviving form; and an unusual spondylometaphyseoepiphyseal dysplasia in yet another form.[supplied by OMIM][2]
See also
References
- ↑ Occhiodoro T, Beckmann KR, Morris CP, Hopwood JJ (Nov 1989). "Human alpha-L-fucosidase: complete coding sequence from cDNA clones". Biochem. Biophys. Res. Commun. 164 (1): 439–45. doi:10.1016/0006-291X(89)91739-7. PMID 2803312.
- 1 2 "Entrez Gene: FUCA1 fucosidase, alpha-L- 1, tissue".
- ↑ HPRD entry
Further reading
- Willems PJ, Gatti R, Darby JK, et al. (1991). "Fucosidosis revisited: a review of 77 patients". Am. J. Med. Genet. 38 (1): 111–31. doi:10.1002/ajmg.1320380125. PMID 2012122.
- Willems PJ, Seo HC, Coucke P, et al. (1999). "Spectrum of mutations in fucosidosis". Eur. J. Hum. Genet. 7 (1): 60–7. doi:10.1038/sj.ejhg.5200272. PMID 10094192.
- Yang M, Allen H, DiCioccio RA (1993). "A mutation generating a stop codon in the alpha-L-fucosidase gene of a fucosidosis patient". Biochem. Biophys. Res. Commun. 189 (2): 1063–8. doi:10.1016/0006-291X(92)92312-L. PMID 1281988.
- Fukushima H, Nishimoto J, Okada S (1991). "Sequencing and expression of a full-length cDNA for human alpha-L-fucosidase". J. Inherit. Metab. Dis. 13 (5): 761–5. doi:10.1007/BF01799583. PMID 2174090.
- Kretz KA, Darby JK, Willems PJ, O'Brien JS (1990). "Characterization of EcoRI mutation in fucosidosis patients: a stop codon in the open reading frame". J. Mol. Neurosci. 1 (3): 177–80. doi:10.1007/BF02918904. PMID 2642067.
- O'Brien JS, Willems PJ, Fukushima H, et al. (1988). "Molecular biology of the alpha-L-fucosidase gene and fucosidosis". Enzyme 38 (1–4): 45–53. PMID 2894306.
- Fukushima H, de Wet JR, O'Brien JS (1985). "Molecular cloning of a cDNA for human alpha-L-fucosidase". Proc. Natl. Acad. Sci. U.S.A. 82 (4): 1262–5. doi:10.1073/pnas.82.4.1262. PMC 397235. PMID 2983333.
- Fowler ML, Nakai H, Byers MG, et al. (1987). "Chromosome 1 localization of the human alpha-L-fucosidase structural gene with a homologous site on chromosome 2". Cytogenet. Cell Genet. 43 (1–2): 103–8. doi:10.1159/000132304. PMID 3780313.
- Kido A, Komatsu N, Ose Y, Oya M (1987). "alpha-L-fucosidase phenotyping in human tissues, dental pulps and hair roots". Forensic Sci. Int. 33 (1): 53–9. doi:10.1016/0379-0738(87)90139-3. PMID 3817676.
- Hopfer RL, Alhadeff JA (1985). "Solubilization and characterization of pellet-associated human brain alpha-L-fucosidase activity". Biochem. J. 229 (3): 679–85. PMC 1145111. PMID 4052017.
- Johnson K, Dawson G (1986). "Molecular defect in processing alpha-fucosidase in fucosidosis". Biochem. Biophys. Res. Commun. 133 (1): 90–7. doi:10.1016/0006-291X(85)91845-5. PMID 4074382.
- de Wet JR, Fukushima H, Dewji NN, et al. (1985). "Chromogenic immunodetection of human serum albumin and alpha-L-fucosidase clones in a human hepatoma cDNA expression library". DNA 3 (6): 437–47. doi:10.1089/dna.1.1984.3.437. PMID 6096099.
- Cragg H, Winchester B, Seo HC, et al. (1995). "Molecular basis of the common electrophoretic polymorphism (Fu1/Fu2) in human alpha-L-fucosidase". J. Med. Genet. 31 (8): 659–60. doi:10.1136/jmg.31.8.659-a. PMC 1050044. PMID 7815431.
- Beyer E, Ivleva T, Artykova G, Wiederschain G (1995). "Change of isoforms' spectra of alpha-L-fucosidase from human skin fibroblasts in intracellular storage of nonhydrolyzable substances". Biochim. Biophys. Acta 1270 (1): 7–11. doi:10.1016/0925-4439(94)00062-u. PMID 7827138.
- Seo HC, Yang M, Tonlorenzi R, et al. (1995). "A missense mutation (S63L) in alpha-L-fucosidase is responsible for fucosidosis in an Italian patient". Hum. Mol. Genet. 3 (11): 2065–6. PMID 7874128.
- Williamson M, Cragg H, Grant J, et al. (1993). "A 5' splice site mutation in fucosidosis". J. Med. Genet. 30 (3): 218–23. doi:10.1136/jmg.30.3.218. PMC 1016303. PMID 8097260.
- Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- Yang M, Allen H, DiCioccio RA (1993). "Pedigree analysis of alpha-L-fucosidase gene mutations in a fucosidosis family". Biochim. Biophys. Acta 1182 (3): 245–9. doi:10.1016/0925-4439(93)90065-9. PMID 8399358.
External links
- Fucosidase at the US National Library of Medicine Medical Subject Headings (MeSH)
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