Fucosidase

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Fucosidase, alpha-L- 1, tissue
Identifiers
Symbol(s) FUCA1
External IDs OMIM: 230000 MGI: 95593 HomoloGene: 20078
EC number 3.2.1.51
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 2517 71665
Ensembl ENSG00000179163 ENSMUSG00000028673
Uniprot P04066 Q3TCW3
Refseq NM_000147 (mRNA)
NP_000138 (protein)		 NM_024243 (mRNA)
NP_077205 (protein)
Location Chr 1: 24.04 - 24.07 Mb Chr 4: 135.19 - 135.21 Mb
Pubmed search [2] [3]

Fucosidase, alpha-L- 1, tissue, also known as FUCA1, is a human gene.[1]

Alpha-Fucosidase is an enzyme that breaks down fucose.[2]

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][1]

Contents

[edit] See also

[edit] References

  1. ^ a b Entrez Gene: FUCA1 fucosidase, alpha-L- 1, tissue.
  2. ^ HPRD entry [1]

[edit] 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. 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. 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. PMID 2642067. 
  • Occhiodoro T, Beckmann KR, Morris CP, Hopwood JJ (1989). "Human alpha-L-fucosidase: complete coding sequence from cDNA clones.". Biochem. Biophys. Res. Commun. 164 (1): 439–45. PMID 2803312. 
  • 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. 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. 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. 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. PMID 4052017. 
  • Johnson K, Dawson G (1986). "Molecular defect in processing alpha-fucosidase in fucosidosis.". Biochem. Biophys. Res. Commun. 133 (1): 90–7. 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. 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. 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. 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. 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. 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. PMID 8399358. 

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Hydrolase: sugar hydrolases (EC 3.2)
3.2.1: Glycoside hydrolases
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Metabolism: carbohydrate metabolism - glycoprotein enzymes
Anabolism
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see also disorders