FUCA1 hydrolyses NGP:1,6-GlcNAc

Stable Identifier
R-HSA-5693807
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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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).

Literature References
PubMed ID Title Journal Year
17175120 Comparative and phylogenetic analysis of alpha-L-fucosidase genes

Intra, J, Perotti, ME, Pavesi, G, Horner, D

Gene 2007
10094192 Spectrum of mutations in fucosidosis

Willems, PJ, Seo, HC, Coucke, P, Tonlorenzi, R, O'Brien, JS

Eur. J. Hum. Genet. 1999
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
alpha-L-fucosidase activity of FUCA1 tetramer [lysosomal lumen]
Physical Entity
Activity
Orthologous Events
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Reviewed
Created