Full Name: Alpha-L-Fucosidase 1
BACKGROUND: 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.
Synonyms: FUCA
Research Areas: Metabolism
Pathways: Metabolism Pathway
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