Fucosidase

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FUCA1
Identifiers
Aliases FUCA1, FUCA, fucosidase, alpha-L- 1, tissue
External IDs OMIM: 612280 MGI: 95593 HomoloGene: 20078 GeneCards: 2517
RNA expression pattern
PBB GE FUCA1 202838 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
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 [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

Tissue alpha-L-fucosidase is an enzyme that in humans is encoded by the FUCA1 gene.[1][2]

Alpha-Fucosidase is an enzyme that breaks down fucose.[3]

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][2]

See also[edit]

References[edit]

  1. ^ 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. 
  2. ^ a b "Entrez Gene: FUCA1 fucosidase, alpha-L- 1, tissue". 
  3. ^ HPRD entry [1]

Further reading[edit]

External links[edit]