Protein Name alpha-L-fucosidase 1
Organism Homo sapiens
Gene ID 2517
Gene Symbol

FUCA1

UniProt P04066 (FUCO_HUMAN), B5MDC5 (B5MDC5_HUMAN)
Relationships Total Number of functionally related compound(s) : 32
Total Number of Articles : 25
Description

alpha-L-fucosidase 1

Gene Summary

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]

synonyms
  • tissue alpha-L-fucosidase
  • I+/--L-fucosidase 1
  • a-L-fucosidase 1
Click to show/hide the synonyms
Properties