Share on Facebook Share on Twitter Email
Answers.com

Fucosidase

 
Veterinary Dictionary: fucosidase
Home > Library > Animal Life > Veterinary Dictionary

An enzyme occurring in two forms that catalyzes the hydrolysis of fucoside to an alcohol and fucose. See also α-fucosidosis.

Search unanswered questions...

Enter a question here...
Search: All sources Community Q&A Reference topics

Wikipedia: Fucosidase
Top
Home > Library > Miscellaneous > Wikipedia
edit
Fucosidase, alpha-L- 1, tissue
Identifiers
Symbol FUCA1
External IDs OMIM: 230000 MGI: 95593 HomoloGene: 20078
EC number 3.2.1.51
RNA expression pattern
PBB GE FUCA1 202838 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 2517 71665
Ensembl ENSG00000179163 ENSMUSG00000028673
UniProt P04066 Q3TCW3
RefSeq NM_000147 (mRNA) NM_024243 (mRNA)
NP_000138 (protein) NP_077205 (protein)
Location Chr 1:
24.04 - 24.07 Mb		 Chr 4:
135.19 - 135.21 Mb
PubMed search [2] [3]

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]

Contents

See also

References

  1. ^ 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. PMID 2803312. 
  2. ^ a b "Entrez Gene: FUCA1 fucosidase, alpha-L- 1, tissue". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2517. 
  3. ^ HPRD entry [1]

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. 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. 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. 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. 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. doi:10.1136/jmg.30.3.218. 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. PMID 8399358. 

External links

Stub icon This article on a gene on chromosome 1 is a stub. You can help Wikipedia by expanding it.
This hydrolase article is a stub. You can help Wikipedia by expanding it.
v • d • e
Hydrolase: sugar hydrolases (EC 3.2)
3.2.1: Glycoside hydrolases
Other
3.2.2: Hydrolysing
N-Glycosyl compounds
v • d • e
Metabolism: carbohydrate metabolism - glycoprotein enzymes
Anabolism
Catabolism
Transport
M6P tagging

This entry is from Wikipedia, the leading user-contributed encyclopedia. It may not have been reviewed by professional editors (see full disclaimer)

 
 
Learn More
α-fucosidosis
Alpha-L-fucosidase
FUCA2

Post a question - any question - to the WikiAnswers community:

 

Copyrights:

Veterinary Dictionary. Saunders Comprehensive Veterinary Dictionary 3rd Edition. Copyright © 2007 by D.C. Blood, V.P. Studdert and C.C. Gay, Elsevier. All rights reserved.  Read more
Wikipedia. This article is licensed under the Creative Commons Attribution/Share-Alike License. It uses material from the Wikipedia article "Fucosidase".  Read more