Tissue alpha-L-fucosidase

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

FUCA1
Identifiers
Aliases	FUCA1, FUCA, fucosidase, alpha-L- 1, tissue, alpha-L-fucosidase 1
External IDs	OMIM: 612280; MGI: 95593; HomoloGene: 20078; GeneCards: FUCA1; OMA:FUCA1 - orthologs
Gene location (Human) Chr. Chromosome 1 (human) Band 1p36.11 Start 23,845,077 bp End 23,868,290 bp
Gene location (Mouse) Chr. Chromosome 4 (mouse) Band 4 D3|4 68.01 cM Start 135,648,046 bp End 135,667,622 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in mucosa of sigmoid colon mucosa of ileum jejunal mucosa rectum corpus epididymis duodenum nasal epithelium palpebral conjunctiva renal medulla pancreatic ductal cell Top expressed in right kidney duodenum colon left colon human kidney granulocyte stroma of bone marrow jejunum ileum epithelium of stomach More reference expression data BioGPS More reference expression data
Gene ontology Molecular function hydrolase activity alpha-L-fucosidase activity hydrolase activity, acting on glycosyl bonds Cellular component cytoplasm lysosome lysosomal lumen extracellular exosome extracellular region azurophil granule lumen Biological process fucose metabolic process metabolism glycosaminoglycan catabolic process glycoside catabolic process neutrophil degranulation glycolipid catabolic process carbohydrate metabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2517 71665 Ensembl ENSG00000179163 ENSMUSG00000028673 UniProt P04066 Q99LJ1 RefSeq (mRNA) NM_000147 NM_024243 RefSeq (protein) NP_000138 NP_077205 Location (UCSC) Chr 1: 23.85 – 23.87 Mb Chr 4: 135.65 – 135.67 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Alpha-fucosidase is an enzyme that breaks out 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

• FUCA2
• 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.
• Yang M, Allen H, DiCioccio RA (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. doi:10.1016/0006-291X(92)92312-L. PMID 1281988.
• Fukushima H, Nishimoto J, Okada S (1991). "Sequencing and expression of a full-length cDNA for human alpha-L-fucosidase". J. Inherit. Metab. Dis. 13 (5): 761–5. doi:10.1007/BF01799583. PMID 2174090. S2CID 39728920.
• Kretz KA, Darby JK, Willems PJ, O'Brien JS (1990). "Characterization of EcoRI mutation in fucosidosis patients: a stop codon in the open reading frame". J. Mol. Neurosci. 1 (3): 177–80. doi:10.1007/BF02918904. PMID 2642067. S2CID 34396075.
• 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.
• Fukushima H, de Wet JR, O'Brien JS (1985). "Molecular cloning of a cDNA for human alpha-L-fucosidase". Proc. Natl. Acad. Sci. U.S.A. 82 (4): 1262–5. Bibcode:1985PNAS...82.1262F. doi:10.1073/pnas.82.4.1262. PMC 397235. PMID 2983333.
• 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.
• Kido A, Komatsu N, Ose Y, Oya M (1987). "alpha-L-fucosidase phenotyping in human tissues, dental pulps and hair roots". Forensic Sci. Int. 33 (1): 53–9. doi:10.1016/0379-0738(87)90139-3. PMID 3817676.
• Hopfer RL, Alhadeff JA (1985). "Solubilization and characterization of pellet-associated human brain alpha-L-fucosidase activity". Biochem. J. 229 (3): 679–85. doi:10.1042/bj2290679. PMC 1145111. PMID 4052017.
• Johnson K, Dawson G (1986). "Molecular defect in processing alpha-fucosidase in fucosidosis". Biochem. Biophys. Res. Commun. 133 (1): 90–7. 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. PMC 1050044. PMID 7815431.
• Beyer E, Ivleva T, Artykova G, Wiederschain G (1995). "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. 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. PMC 1016303. PMID 8097260.
• Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
• Yang M, Allen H, DiCioccio RA (1993). "Pedigree analysis of alpha-L-fucosidase gene mutations in a fucosidosis family". Biochim. Biophys. Acta. 1182 (3): 245–9. doi:10.1016/0925-4439(93)90065-9. PMID 8399358.

External links

• Fucosidase at the U.S. National Library of Medicine Medical Subject Headings (MeSH)