Fucosidase

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Fucosidase, alpha-L- 1, tissue
Identifiers
Symbols FUCA1 ; FUCA
External IDs OMIM612280 MGI95593 HomoloGene20078 ChEMBL: 4176 GeneCards: FUCA1 Gene
EC number 3.2.1.51
RNA expression pattern
PBB GE FUCA1 202838 at tn.png
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 NP_077205
Location (UCSC) Chr 1:
24.17 – 24.19 Mb
Chr 4:
135.92 – 135.94 Mb
PubMed search [2] [3]

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]