Aliases for FUCA1 Gene
External Ids for FUCA1 Gene
Previous GeneCards Identifiers for FUCA1 Gene
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]
GeneCards Summary for FUCA1 Gene
FUCA1 (Fucosidase, Alpha-L- 1, Tissue) is a Protein Coding gene. Diseases associated with FUCA1 include fucosidosis and lysosomal storage disease. Among its related pathways are Transport to the Golgi and subsequent modification and Lysosome. GO annotations related to this gene include carbohydrate binding and alpha-L-fucosidase activity. An important paralog of this gene is FUCA2.
UniProtKB/Swiss-Prot for FUCA1 Gene
Alpha-L-fucosidase is responsible for hydrolyzing the alpha-1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins.