Biology:Fucosidase

Short description: Protein-coding gene in the species Homo sapiens

Generic protein structure example

Tissue alpha-L-fucosidase is an enzyme that in humans is encoded by the FUCA1 gene.

Alpha-Fucosidase is an enzyme that breaks down fucose.

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]

See also

• Fucosidosis

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. 
• "A mutation generating a stop codon in the alpha-L-fucosidase gene of a fucosidosis patient". Biochem. Biophys. Res. Commun. 189 (2): 1063–8. 1993. doi:10.1016/0006-291X(92)92312-L. PMID 1281988. 
• "Sequencing and expression of a full-length cDNA for human alpha-L-fucosidase". J. Inherit. Metab. Dis. 13 (5): 761–5. 1991. doi:10.1007/BF01799583. PMID 2174090. 
• "Characterization of EcoRI mutation in fucosidosis patients: a stop codon in the open reading frame". J. Mol. Neurosci. 1 (3): 177–80. 1990. 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. doi:10.1159/000469189. PMID 2894306. 
• "Molecular cloning of a cDNA for human alpha-L-fucosidase". Proc. Natl. Acad. Sci. U.S.A. 82 (4): 1262–5. 1985. doi:10.1073/pnas.82.4.1262. PMID 2983333. Bibcode: 1985PNAS...82.1262F. 
• 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. 
• "alpha-L-fucosidase phenotyping in human tissues, dental pulps and hair roots". Forensic Sci. Int. 33 (1): 53–9. 1987. doi:10.1016/0379-0738(87)90139-3. PMID 3817676. 
• "Solubilization and characterization of pellet-associated human brain alpha-L-fucosidase activity". Biochem. J. 229 (3): 679–85. 1985. doi:10.1042/bj2290679. PMID 4052017. 
• "Molecular defect in processing alpha-fucosidase in fucosidosis". Biochem. Biophys. Res. Commun. 133 (1): 90–7. 1986. 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. PMID 7815431. 
• "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. 1995. 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. PMID 8097260. 
• "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1–2): 171–4. 1994. doi:10.1016/0378-1119(94)90802-8. PMID 8125298. 
• "Pedigree analysis of alpha-L-fucosidase gene mutations in a fucosidosis family". Biochim. Biophys. Acta 1182 (3): 245–9. 1993. doi:10.1016/0925-4439(93)90065-9. PMID 8399358. 

External links

• Fucosidase at the US National Library of Medicine Medical Subject Headings (MeSH)