Fucosidase

Fucosidase

Fucosidase, alpha-L- 1, tissue, also known as FUCA1, is a human gene.cite web | title = Entrez Gene: FUCA1 fucosidase, alpha-L- 1, tissue| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2517| accessdate = ]

Alpha-Fucosidase is an enzyme that breaks down fucose. [HPRD entry [http://www.hprd.org/protein/01974] ]

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summary_text = 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] cite web | title = Entrez Gene: FUCA1 fucosidase, alpha-L- 1, tissue| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2517| accessdate = ]

ee also

* Fucosidosis

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Willems PJ, Gatti R, Darby JK, "et al." |title=Fucosidosis revisited: a review of 77 patients. |journal=Am. J. Med. Genet. |volume=38 |issue= 1 |pages= 111–31 |year= 1991 |pmid= 2012122 |doi= 10.1002/ajmg.1320380125
*cite journal | author=Willems PJ, Seo HC, Coucke P, "et al." |title=Spectrum of mutations in fucosidosis. |journal=Eur. J. Hum. Genet. |volume=7 |issue= 1 |pages= 60–7 |year= 1999 |pmid= 10094192 |doi= 10.1038/sj.ejhg.5200272
*cite journal | author=Yang M, Allen H, DiCioccio RA |title=A mutation generating a stop codon in the alpha-L-fucosidase gene of a fucosidosis patient. |journal=Biochem. Biophys. Res. Commun. |volume=189 |issue= 2 |pages= 1063–8 |year= 1993 |pmid= 1281988 |doi=
*cite journal | author=Fukushima H, Nishimoto J, Okada S |title=Sequencing and expression of a full-length cDNA for human alpha-L-fucosidase. |journal=J. Inherit. Metab. Dis. |volume=13 |issue= 5 |pages= 761–5 |year= 1991 |pmid= 2174090 |doi=
*cite journal | author=Kretz KA, Darby JK, Willems PJ, O'Brien JS |title=Characterization of EcoRI mutation in fucosidosis patients: a stop codon in the open reading frame. |journal=J. Mol. Neurosci. |volume=1 |issue= 3 |pages= 177–80 |year= 1990 |pmid= 2642067 |doi=
*cite journal | author=Occhiodoro T, Beckmann KR, Morris CP, Hopwood JJ |title=Human alpha-L-fucosidase: complete coding sequence from cDNA clones. |journal=Biochem. Biophys. Res. Commun. |volume=164 |issue= 1 |pages= 439–45 |year= 1989 |pmid= 2803312 |doi=
*cite journal | author=O'Brien JS, Willems PJ, Fukushima H, "et al." |title=Molecular biology of the alpha-L-fucosidase gene and fucosidosis. |journal=Enzyme |volume=38 |issue= 1-4 |pages= 45–53 |year= 1988 |pmid= 2894306 |doi=
*cite journal | author=Fukushima H, de Wet JR, O'Brien JS |title=Molecular cloning of a cDNA for human alpha-L-fucosidase. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=82 |issue= 4 |pages= 1262–5 |year= 1985 |pmid= 2983333 |doi=
*cite journal | author=Fowler ML, Nakai H, Byers MG, "et al." |title=Chromosome 1 localization of the human alpha-L-fucosidase structural gene with a homologous site on chromosome 2. |journal=Cytogenet. Cell Genet. |volume=43 |issue= 1-2 |pages= 103–8 |year= 1987 |pmid= 3780313 |doi=
*cite journal | author=Kido A, Komatsu N, Ose Y, Oya M |title=alpha-L-fucosidase phenotyping in human tissues, dental pulps and hair roots. |journal=Forensic Sci. Int. |volume=33 |issue= 1 |pages= 53–9 |year= 1987 |pmid= 3817676 |doi=
*cite journal | author=Hopfer RL, Alhadeff JA |title=Solubilization and characterization of pellet-associated human brain alpha-L-fucosidase activity. |journal=Biochem. J. |volume=229 |issue= 3 |pages= 679–85 |year= 1985 |pmid= 4052017 |doi=
*cite journal | author=Johnson K, Dawson G |title=Molecular defect in processing alpha-fucosidase in fucosidosis. |journal=Biochem. Biophys. Res. Commun. |volume=133 |issue= 1 |pages= 90–7 |year= 1986 |pmid= 4074382 |doi=
*cite journal | author=de Wet JR, Fukushima H, Dewji NN, "et al." |title=Chromogenic immunodetection of human serum albumin and alpha-L-fucosidase clones in a human hepatoma cDNA expression library. |journal=DNA |volume=3 |issue= 6 |pages= 437–47 |year= 1985 |pmid= 6096099 |doi=
*cite journal | author=Cragg H, Winchester B, Seo HC, "et al." |title=Molecular basis of the common electrophoretic polymorphism (Fu1/Fu2) in human alpha-L-fucosidase. |journal=J. Med. Genet. |volume=31 |issue= 8 |pages= 659–60 |year= 1995 |pmid= 7815431 |doi=
*cite journal | author=Beyer E, Ivleva T, Artykova G, Wiederschain G |title=Change of isoforms' spectra of alpha-L-fucosidase from human skin fibroblasts in intracellular storage of nonhydrolyzable substances. |journal=Biochim. Biophys. Acta |volume=1270 |issue= 1 |pages= 7–11 |year= 1995 |pmid= 7827138 |doi=
*cite journal | author=Seo HC, Yang M, Tonlorenzi R, "et al." |title=A missense mutation (S63L) in alpha-L-fucosidase is responsible for fucosidosis in an Italian patient. |journal=Hum. Mol. Genet. |volume=3 |issue= 11 |pages= 2065–6 |year= 1995 |pmid= 7874128 |doi=
*cite journal | author=Williamson M, Cragg H, Grant J, "et al." |title=A 5' splice site mutation in fucosidosis. |journal=J. Med. Genet. |volume=30 |issue= 3 |pages= 218–23 |year= 1993 |pmid= 8097260 |doi=
*cite journal | author=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1-2 |pages= 171–4 |year= 1994 |pmid= 8125298 |doi=
*cite journal | author=Yang M, Allen H, DiCioccio RA |title=Pedigree analysis of alpha-L-fucosidase gene mutations in a fucosidosis family. |journal=Biochim. Biophys. Acta |volume=1182 |issue= 3 |pages= 245–9 |year= 1993 |pmid= 8399358 |doi=

External links

*

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Look at other dictionaries:

  • fucosidase — noun Any enzyme that catalyzes the hydrolysis of a fucoside …   Wiktionary

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  • 1,2-alpha-L-fucosidase — In enzymology, a 1,2 alpha L fucosidase (EC number|3.2.1.63) is an enzyme that catalyzes the chemical reaction:methyl 2 alpha L fucopyranosyl beta D galactoside + H2O ightleftharpoons L fucose + methyl beta D galactosideThus, the two substrates… …   Wikipedia

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  • Alpha-L-fucosidase — In enzymology, an alpha L fucosidase (EC number|3.2.1.51) is an enzyme that catalyzes the chemical reaction:an alpha L fucoside + H2O ightleftharpoons L fucose + an alcoholThus, the two substrates of this enzyme are alpha L fucoside and H2O,… …   Wikipedia

  • α-fucosidase — An enzyme that catalyzes the hydrolysis of an an α l fucoside, producing an alcohol and l fucose; a deficiency of the lysosomal enzyme will result in fucosidosis …   Medical dictionary

  • α-L-fucosidase — α L fu·co·si·dase (fu koґsĭ dās) [EC 3.2.1.51] an enzyme of the hydrolase class that catalyzes cleavage of terminal α linked L fucose residues from fucosides. The reaction is important in the degradation of fucose containing… …   Medical dictionary

  • FUC — • fucosidase …   Dictionary of medical acronyms & abbreviations

  • FUCA2 — Fucosidase, alpha L 2, plasma, also known as FUCA2, is a human gene.cite web | title = Entrez Gene: FUCA2 fucosidase, alpha L 2, plasma| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView TermToSearch=2519| accessdate = ]… …   Wikipedia

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