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Gene Review

FUCA1  -  fucosidase, alpha-L- 1, tissue

Homo sapiens

Synonyms: Alpha-L-fucosidase 1, Alpha-L-fucosidase I, Alpha-L-fucoside fucohydrolase 1, Nbla10230, Tissue alpha-L-fucosidase
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Disease relevance of FUCA1

  • Exon by exon mutation analysis of FUCA1, the structural gene of alpha-l-fucosidase, has identified the mutation(s) in nearly all fucosidosis patients investigated [1].

High impact information on FUCA1

  • The combined lod score for linkage between the fucosidosis mutation and FUCA 1 markers in two families was significant at a recombination fraction of 0 [2].
  • A single gene, FUCA 1, located on chromosome 1p34.1-1p36.1 encodes for alpha-L-fucosidase activity [2].
  • Restriction-endonuclease analysis suggests that at least seven exons dispersed over 22 kb are present in genomic FUCA 1 [2].
  • In five patients Southern blot analysis showed obliteration of an EcoRI restriction site in the open reading frame of FUCA 1 encoding mature alpha-L-fucosidase [3].
  • Five patient groups with fucosidosis were selected according to their ethnic backgrounds and haplotypes for RFLPs in FUCA-1 [4].

Biological context of FUCA1

  • The gene encoding lysosomal alpha-fucosidase has been mapped to the short arm of chromosome 1 at position 1p34.1-36.1 and has been called FUCA1 [5].
  • Genetic linkage analysis of the 40 families provided by the Centre d'Etude du Polymorphisme Humain (CEPH) showed that FGR maps to a location 3.1 cM from the Rh blood group locus (RH), and falls in the 17.5-cM gap between alpha-fucosidase (FUCA1) and D1S57 [6].
  • FUCA1P is a pseudogene of the structural fucosidase gene FUCA1 [7].
  • Strong support for linkage between ALPL, FUCA1 and FGR was obtained for all sire families (lod scores > 11 for all pairwise comparisons) [8].
  • Pvu II RFLP at the human chromosome 1 alpha-L-fucosidase gene locus (FUCA1) [9].

Anatomical context of FUCA1

  • Genetically polymorphic alpha-L-fucosidase (FUCA1) isozymes detected in blood plasma [10].
  • The main isozyme patterns of desialylated blood plasma or serum alpha-L-fucosidase (FUCA) were found to be almost identical to those of semen, urine, placental extracts, and leukocyte lysates, when detected by polyacrylamide gel isoelectric focusing, and activity staining using the fluorogenic substrate 4-methylumbelliferyl-alpha-L-fucopyranoside [10].

Associations of FUCA1 with chemical compounds

  • A large, intact sulfide chimney, designated Finn, was recovered from the Mothra Vent Field on the Juan de Fuca Ridge in 1998 [11].
  • Little is known about the microbiology of the "Bag City" hydrothermal vent, which is part of a new eruption site on the Juan de Fuca Ridge and which is notable for its accumulation of polysaccharide on the sediment surface [12].
  • Isolation of tellurite- and selenite-resistant bacteria from hydrothermal vents of the Juan de Fuca Ridge in the Pacific Ocean [13].

Other interactions of FUCA1

  • Data from additional markers (DNF15S1, D1Z2, FUCA1, D1S17, D1S57, and PGM1) make it possible to exclude the DNS gene from the short arm of chromosome 1 in these Dutch families [14].
  • Additional PCR screening of a regional screening panel for chromosome 1p indicated that ECK is localized to 1p36, distal to FUCA1 [15].

Analytical, diagnostic and therapeutic context of FUCA1

  • A new banding pattern was detected in the patient by Southern blotting of genomic DNA using TaqI restriction and a cDNA FUCA1 probe [5].
  • We have identified six new potential disease causing mutations detected by PCR amplification and sequencing of all 8 exons of the alpha-L-fucosidase gene FUCA1 [16].
  • As part of the evaluation of this pilot program, a sample of 74 Juan de Fuca workers were interviewed to determine their perceptions of resident, family, and staff needs in relation to palliative care [17].


  1. Spectrum of mutations in fucosidosis. Willems, P.J., Seo, H.C., Coucke, P., Tonlorenzi, R., O'Brien, J.S. Eur. J. Hum. Genet. (1999) [Pubmed]
  2. Restriction analysis of the structural alpha-L-fucosidase gene and its linkage to fucosidosis. Darby, J.K., Willems, P.J., Nakashima, P., Johnsen, J., Ferrell, R.E., Wijsman, E.M., Gerhard, D.S., Dracopoli, N.C., Housman, D., Henke, J. Am. J. Hum. Genet. (1988) [Pubmed]
  3. Identification of a mutation in the structural alpha-L-fucosidase gene in fucosidosis. Willems, P.J., Darby, J.K., DiCioccio, R.A., Nakashima, P., Eng, C., Kretz, K.A., Cavalli-Sforza, L.L., Shooter, E.M., O'Brien, J.S. Am. J. Hum. Genet. (1988) [Pubmed]
  4. Fucosidosis: four new mutations and a new polymorphism. Seo, H.C., Willems, P.J., Kretz, K.A., Martin, B.M., O'Brien, J.S. Hum. Mol. Genet. (1993) [Pubmed]
  5. A 5' splice site mutation in fucosidosis. Williamson, M., Cragg, H., Grant, J., Kretz, K., O'Brien, J., Willems, P.J., Young, E., Winchester, B. J. Med. Genet. (1993) [Pubmed]
  6. Localization of the FGR protooncogene on the genetic linkage map of human chromosome 1p. Dracopoli, N.C., Stanger, B.Z., Lager, M., Housman, D.E. Genomics (1988) [Pubmed]
  7. Assignment of the fucosidase pseudogene FUCA1P to chromosome region 2q31----q32. Coucke, P., Mangelschots, K., Speleman, F., Bossuyt, P., Van Oostveldt, P., Van der Auwera, B., Carritt, B., Willems, P.J. Cytogenet. Cell Genet. (1991) [Pubmed]
  8. The bovine B and C blood group systems are not likely to be the orthologues of human RH: an interesting twist in the comparative map. Lewin, H.A., Beever, J.E., Da, Y., Hines, H.C., Faulkner, D.B. Anim. Genet. (1994) [Pubmed]
  9. Pvu II RFLP at the human chromosome 1 alpha-L-fucosidase gene locus (FUCA1). Darby, J.K., Johnsen, J., Nakashima, P., Willems, P.J., O'Brien, J.S., Fowler, M.L., Shows, T.B., Shooter, E.M., Cavalli-Sforza, L.L. Nucleic Acids Res. (1986) [Pubmed]
  10. Genetically polymorphic alpha-L-fucosidase (FUCA1) isozymes detected in blood plasma. Takeshita, H., Yasuda, T., Nadano, D., Iida, R., Nakanaga, M., Tenjo, E., Sawazaki, K., Kishi, K. Hum. Genet. (1994) [Pubmed]
  11. Incidence and diversity of microorganisms within the walls of an active deep-sea sulfide chimney. Schrenk, M.O., Kelley, D.S., Delaney, J.R., Baross, J.A. Appl. Environ. Microbiol. (2003) [Pubmed]
  12. Thermophily in the Geobacteraceae: Geothermobacter ehrlichii gen. nov., sp. nov., a novel thermophilic member of the Geobacteraceae from the "Bag City" hydrothermal vent. Kashefi, K., Holmes, D.E., Baross, J.A., Lovley, D.R. Appl. Environ. Microbiol. (2003) [Pubmed]
  13. Isolation of tellurite- and selenite-resistant bacteria from hydrothermal vents of the Juan de Fuca Ridge in the Pacific Ocean. Rathgeber, C., Yurkova, N., Stackebrandt, E., Beatty, J.T., Yurkov, V. Appl. Environ. Microbiol. (2002) [Pubmed]
  14. Exclusion of the dysplastic nevus syndrome (DNS) locus from the short arm of chromosome 1 by linkage studies in Dutch families. van Haeringen, A., Bergman, W., Nelen, M.R., van der Kooij-Meijs, E., Hendrikse, I., Wijnen, J.T., Khan, P.M., Klasen, E.C., Frants, R.R. Genomics (1989) [Pubmed]
  15. ECK, a human EPH-related gene, maps to 1p36.1, a common region of alteration in human cancers. Sulman, E.P., Tang, X.X., Allen, C., Biegel, J.A., Pleasure, D.E., Brodeur, G.M., Ikegaki, N. Genomics (1997) [Pubmed]
  16. Six additional mutations in fucosidosis: three nonsense mutations and three frameshift mutations. Seo, H.C., Willems, P.J., O'Brien, J.S. Hum. Mol. Genet. (1993) [Pubmed]
  17. Palliative care needs of residents, families, and staff in long-term care facilities. Rutman, D., Parke, B. Journal of palliative care. (1992) [Pubmed]
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