Entrez gene ID | | 2517 |
Official gene symbol | | FUCA1 |
Full name | | fucosidase, alpha-L- 1, tissue |
Aliases | | ,FUCA, |
Gene summary | | The protein encoded by this gene is a lysosomal enzyme involved in the degradation of fucose-containing glycoproteins and glycolipids. Mutations in this gene are associated with fucosidosis (FUCA1D), which is an autosomal recessive lysosomal storage disease. A pseudogene of this locus is present on chr 2. |
Location | | Chromosome: 1 Locus: 1p34 |
Gene position | | 24194859 - 24171567 Map Viewer |
Gene orientation | | minus |
Gene size | | 23293 bp |
Gene sequence |
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OMIM ID | | 612280 |
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