Tissue alpha-L-fucosidase (FUCA1) is a lysosomal enzyme that removes terminal L-fucose residues from the oligosaccharide chains of N-glycoproteins (NGPs). In humans, FUCA1 encodes the tissue enzyme, whilst FUCA2 encodes plasma alpha-L-fucosidase (Intra et al. 2007). Defects in FUCA1 can cause fucosidosis (FUCA1D; MIM:230000), a rare lysosomal storage disorder characterised by progressive psychomotor deterioration, angiokeratoma and growth retardation (Willems et al. 1999).
Willems, PJ, O'Brien, JS, Seo, HC, Tonlorenzi, R, Coucke, P
Pavesi, G, Horner, D, Perotti, ME, Intra, J
alpha-L-fucosidase activity of FUCA1 tetramer [lysosomal lumen]
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