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 (Alpha-L-Fucosidase 1) 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 N-glycan antennae elongation in the medial/trans-Golgi. Gene Ontology (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 Summary 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.