Gene Symbol | FUCA1 |
Entrez Gene ID | 2517 |
Full Name | alpha-L-fucosidase 1 |
Synonyms | FUCA |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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.[provided by RefSeq, Oct 2009]. |
Disorder MIM: | |
Disorder Html: | Fucosidosis, 230000 (3) |