Fucosidase

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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)
Chromosome 1 (human)
Chr. Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for FUCA1
Genomic location for FUCA1
Band No data available Start 23,845,077 bp[1]
End 23,868,294 bp[1]
RNA expression pattern
PBB GE FUCA1 202838 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000147

NM_024243

RefSeq (protein)

NP_000138

NP_077205

Location (UCSC) Chr 1: 23.85 – 23.87 Mb Chr 1: 135.92 – 135.94 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[edit]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000179163 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000028673 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  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. PMID 2803312. doi:10.1016/0006-291X(89)91739-7. 
  6. ^ a b "Entrez Gene: FUCA1 fucosidase, alpha-L- 1, tissue". 
  7. ^ HPRD entry [1]

Further reading[edit]

External links[edit]