Fucosidase

FUCA1
Identifiers
Aliases	FUCA1 , FUCA, fucosidase, alpha-L- 1, tissue, alpha-L-fucosidase 1
External IDs	OMIM: 612280 MGI: 95593 HomoloGene: 20078 GeneCards: FUCA1
Gene location (Human) Chr. Chromosome 1 (human) [1] Band 1p36.11 Start 23,845,077 bp [1] End 23,868,290 bp [1]
Gene location (Mouse) Chr. Chromosome 4 (mouse) [2] Band 4 D3|4 68.01 cM Start 135,648,046 bp [2] End 135,667,622 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in jejunal mucosa rectum corpus epididymis duodenum palpebral conjunctiva renal medulla pancreatic ductal cell lymph node seminal vesicula placenta Top expressed in duodenum colon left colon kidney jejunum ileum Epithelium of stomach crypt of lieberkuhn of small intestine Paneth cell parotid gland 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 [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Tissue alpha-L-fucosidase is an enzyme that in humans is encoded by the FUCA1 gene. ^{[5] [6]}

Alpha-Fucosidase is an enzyme that breaks down fucose. ^[7]

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] ^[6]

See also

• Fucosidosis

References

1. GRCh38: Ensembl release 89: ENSG00000179163 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000028673 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Occhiodoro T, Beckmann KR, Morris CP, Hopwood JJ (Nov 1989). "Human alpha-L-fucosidase: complete coding sequence from cDNA clones". Biochem. Biophys. Res. Commun. 164 (1): 439–45. doi:10.1016/0006-291X(89)91739-7. PMID   2803312.
6. "Entrez Gene: FUCA1 fucosidase, alpha-L- 1, tissue".
7. HPRD entry Archived 2004-10-24 at the Wayback Machine

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 US National Library of Medicine Medical Subject Headings (MeSH)