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Human FUCA1  Gene / cDNA Clone

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FUCA1
HP102558 

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    FUCA1 Summary & Protein Information

    FUCA1 Background

    Gene Summary: The protein encoded by this FUCA1 gene is a lysosomal enzyme involved in the degradation of fucose-containing glycoproteins and glycolipids. Mutations in FUCA1 are associated with fucosidosis (FUCA1D), which is an autosomal recessive lysosomal storage disease. A pseudogene of this locus is present on chr 2.[provided by RefSeq, Oct 2009]
    General information above from NCBI
    Catalytic activity: An alpha-L-fucoside + H(2)O = L-fucose + an alcohol. {ECO:0000255|PROSITE-ProRule:PRU10054}.
    Subunit structure: Homotetramer.
    Subcellular location: Lysosome.
    Involvement in disease: DISEASE: Fucosidosis (FUCA1D) [MIM:230000]: An autosomal recessive lysosomal storage disease characterized by accumulation of fucose-containing glycolipids and glycoproteins in various tissues. Clinical signs include facial dysmorphism, dysostosis multiplex, moderate hepatomegaly, severe intellectual deficit, deafness, and according to age, angiokeratomas. {ECO:0000269|PubMed:7874128, ECO:0000269|PubMed:8504303, ECO:0000269|PubMed:9762612}. Note=The disease is caused by mutations affecting the gene represented in this entry.
    Sequence similarity: Belongs to the glycosyl hydrolase 29 family. {ECO:0000305}.
    General information above from UniProt

    FUCA1 is a lysosomal enzyme involved in the degradation of fucose-containing glycoproteins and glycolipids. Mutations in FUCA1 gene are associated with fucosidosis (FUCA1D), which is an autosomal recessive lysosomal storage disease. 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.

    FUCA1 Alternative Name

    FUCA, [homo-sapiens]
    alpha-L- 1,alpha-L-fucosidase 1,alpha-L-fucosidase I,alpha-L-fucoside fucohydrolase 1,FUCA,FUCA1,fucosidase,RP11-45G17.1,tissue,tissue alpha-L-fucosidase, [human]
    0610006A03Rik,9530055J05Rik,Afuc,alpha-L- 1,alpha-L-1,alpha-L-fucosidase 1,alpha-L-fucosidase I,alpha-L-fucoside fucohydrolase 1,Fuca,Fuca1,fucosidase,RP23-161N17.6,tissue,tissue alpha-L-fucosidase, [mouse]
    Afuc,Fuca,0610006A03Rik,9530055J05Rik, [mus-musculus]

    FUCA1 Related Studies

  • Yang M, et al. (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.
  • Fukushima H, et al. (1991) Sequencing and expression of a full-length cDNA for human alpha-L-fucosidase. J Inherit Metab Dis. 13(5):761-5.
  • Kretz KA, et al. (1990) Characterization of EcoRI mutation in fucosidosis patients: a stop codon in the open reading frame. J Mol Neurosci. 1(3):177-80.
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