XB-FEAT-5940578

fuca1

This is the community wiki page for the gene fuca1 please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase.

nomenclature changes

06/26/2017

Human name has changed for Entrez Gene: 2517. From fucosidase, alpha-L- 1, tissue to alpha-L-fucosidase 1

summary from NCBI

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]