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Tissue alpha-L-fucosidase

From Wikipedia, the free encyclopedia
FUCA1
Identifiers
AliasesFUCA1, FUCA, fucosidase, alpha-L- 1, tissue, alpha-L-fucosidase 1
External IDsOMIM: 612280; MGI: 95593; HomoloGene: 20078; GeneCards: FUCA1; OMA:FUCA1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000147

NM_024243

RefSeq (protein)

NP_000138

NP_077205

Location (UCSC)Chr 1: 23.85 – 23.87 MbChr 4: 135.65 – 135.67 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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 out 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

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References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000179163Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000028673Ensembl, 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. ^ a b "Entrez Gene: FUCA1 fucosidase, alpha-L- 1, tissue".
  7. ^ HPRD entry [1] Archived 2004-10-24 at the Wayback Machine

Further reading

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