Fucosidase

FUCA1
Identifiers
Aliases FUCA1, FUCA, fucosidase, alpha-L- 1, tissue
External IDs OMIM: 612280 MGI: 95593 HomoloGene: 20078 GeneCards: FUCA1
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez

2517

71665

Ensembl

ENSG00000179163

ENSMUSG00000028673

UniProt

P04066

Q99LJ1

RefSeq (mRNA)

NM_000147

NM_024243

RefSeq (protein)

NP_000138.2

NP_077205.3

Location (UCSC) Chr 1: 23.85 – 23.87 Mb Chr 4: 135.92 – 135.94 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

Tissue alpha-L-fucosidase is an enzyme that in humans is encoded by the FUCA1 gene.[3][4]

Alpha-Fucosidase is an enzyme that breaks down fucose.[5]

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][4]

See also

References

  1. "Human PubMed Reference:".
  2. "Mouse PubMed Reference:".
  3. 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.
  4. 1 2 "Entrez Gene: FUCA1 fucosidase, alpha-L- 1, tissue".
  5. HPRD entry

Further reading

External links


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