Fucosidase
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Fucosidase, alpha-L- 1, tissue | |||||||||||||
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Identifiers | |||||||||||||
Symbols | FUCA1 ; FUCA | ||||||||||||
External IDs | OMIM: 612280 MGI: 95593 HomoloGene: 20078 ChEMBL: 4176 GeneCards: FUCA1 Gene | ||||||||||||
EC number | 3.2.1.51 | ||||||||||||
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RNA expression pattern | |||||||||||||
File: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: 23.85 – 23.87 Mb |
Chr 4: 135.92 – 135.94 Mb |
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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
References
Further reading
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External links
- Fucosidase at the US National Library of Medicine Medical Subject Headings (MeSH)
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