NCBI Description of FUCA1
|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.|
Community Annotation of FUCA1 Add / Edit FUCA1: Annotations
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