Tissue alpha-L-fucosidase explained

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 out 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]

See also

• FUCA2
• Fucosidosis

Further reading

• Willems PJ . Fucosidosis revisited: a review of 77 patients . Am. J. Med. Genet. . 38 . 1 . 111–31 . 1991 . 2012122 . 10.1002/ajmg.1320380125 . vanc. Gatti R . Darby JK . 3 . Romeo . Giovanni . Durand . Paolo . Dumon . Jan E. . O'Brien . John S. .
• Willems PJ . Spectrum of mutations in fucosidosis . Eur. J. Hum. Genet. . 7 . 1 . 60–7 . 1999 . 10094192 . 10.1038/sj.ejhg.5200272 . vanc. Seo HC . Coucke P . 3 . Tonlorenzi . Rossana . O'Brien . John S . free .
• Yang M, Allen H, DiCioccio RA . 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 . 1281988 . 10.1016/0006-291X(92)92312-L .
• Fukushima H, Nishimoto J, Okada S . Sequencing and expression of a full-length cDNA for human alpha-L-fucosidase . J. Inherit. Metab. Dis. . 13 . 5 . 761–5 . 1991 . 2174090 . 10.1007/BF01799583 . 39728920 .
• Kretz KA, Darby JK, Willems PJ, O'Brien JS . Characterization of EcoRI mutation in fucosidosis patients: a stop codon in the open reading frame . J. Mol. Neurosci. . 1 . 3 . 177–80 . 1990 . 2642067 . 10.1007/BF02918904 . 34396075 .
• O'Brien JS . Molecular biology of the alpha-L-fucosidase gene and fucosidosis . Enzyme . 38 . 1–4 . 45–53 . 1988 . 2894306 . 10.1159/000469189. vanc. Willems PJ . Fukushima H . 3 . De Wet . JR . Darby . JK . Di Cioccio . R . Fowler . ML . Shows . TB .
• Fukushima H, de Wet JR, O'Brien JS . Molecular cloning of a cDNA for human alpha-L-fucosidase . Proc. Natl. Acad. Sci. U.S.A. . 82 . 4 . 1262–5 . 1985 . 2983333 . 10.1073/pnas.82.4.1262 . 397235 . 1985PNAS...82.1262F . free .
• Fowler ML . 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 . 1987 . 3780313 . 10.1159/000132304 . vanc. Nakai H . Byers MG . 3 . Fukushima . H. . Eddy . R.L. . Henry . W.M. . Haley . L.L. . O'Brien . J.S. . Shows . T.B. .
• Kido A, Komatsu N, Ose Y, Oya M . alpha-L-fucosidase phenotyping in human tissues, dental pulps and hair roots . Forensic Sci. Int. . 33 . 1 . 53–9 . 1987 . 3817676 . 10.1016/0379-0738(87)90139-3 .
• Hopfer RL, Alhadeff JA . Solubilization and characterization of pellet-associated human brain alpha-L-fucosidase activity . Biochem. J. . 229 . 3 . 679–85 . 1985 . 10.1042/bj2290679 . 4052017 . 1145111 .
• Johnson K, Dawson G . Molecular defect in processing alpha-fucosidase in fucosidosis . Biochem. Biophys. Res. Commun. . 133 . 1 . 90–7 . 1986 . 4074382 . 10.1016/0006-291X(85)91845-5 .
• de Wet JR . Chromogenic immunodetection of human serum albumin and alpha-L-fucosidase clones in a human hepatoma cDNA expression library . DNA . 3 . 6 . 437–47 . 1985 . 6096099 . 10.1089/dna.1.1984.3.437. vanc. Fukushima H . Dewji NN . 3 . Wilcox . E . O'Brien . JS . Helinski . DR .
• Cragg H . Molecular basis of the common electrophoretic polymorphism (Fu1/Fu2) in human alpha-L-fucosidase . J. Med. Genet. . 31 . 8 . 659–60 . 1995 . 7815431 . 10.1136/jmg.31.8.659-a . 1050044 . vanc. Winchester B . Seo HC . 3 . O'Brien . J . Swallow . D .
• Beyer E, Ivleva T, Artykova G, Wiederschain G . 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 . 7827138 . 10.1016/0925-4439(94)00062-u.
• Seo HC . A missense mutation (S63L) in alpha-L-fucosidase is responsible for fucosidosis in an Italian patient . Hum. Mol. Genet. . 3 . 11 . 2065–6 . 1995 . 7874128 . vanc. Yang M . Tonlorenzi R . 3 . Willems . PJ . Kim . AH . Filocamo . M . Gatti . R . Dicioccio . RA . O'Brien . JS .
• Williamson M . A 5' splice site mutation in fucosidosis . J. Med. Genet. . 30 . 3 . 218–23 . 1993 . 8097260 . 10.1136/jmg.30.3.218 . 1016303 . vanc. Cragg H . Grant J . 3 . Kretz . K . O'Brien . J . Willems . P J . Young . E . Winchester . B .
• Maruyama K, Sugano S . Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides . Gene . 138 . 1–2 . 171–4 . 1994 . 8125298 . 10.1016/0378-1119(94)90802-8 .
• Yang M, Allen H, DiCioccio RA . Pedigree analysis of alpha-L-fucosidase gene mutations in a fucosidosis family . Biochim. Biophys. Acta . 1182 . 3 . 245–9 . 1993 . 8399358 . 10.1016/0925-4439(93)90065-9.

Notes and References

1. Occhiodoro T, Beckmann KR, Morris CP, Hopwood JJ . Human alpha-L-fucosidase: complete coding sequence from cDNA clones . Biochem. Biophys. Res. Commun. . 164 . 1 . 439–45 . Nov 1989 . 2803312 . 10.1016/0006-291X(89)91739-7 .
2. Web site: Entrez Gene: FUCA1 fucosidase, alpha-L- 1, tissue.
3. [HPRD]