Alpha-L-fucosidase 1 (FUCA1)

Alpha-L-fucosidase 1 is a lysosomal glycoside hydrolase (EC 3.2.1.51) encoded by the FUCA1 gene. It hydrolyzes terminal L-fucose residues from glycans bound to glycoproteins and glycolipids, serving a crucial role in cellular glycan degradation. Genetic deficiency of this enzyme leads to fucosidosis, a lysosomal storage disorder characterized by progressive neurological decline, organomegaly, and characteristic skin and skeletal findings[2]. Structurally, alpha-L-fucosidase 1 belongs to the CAZy GH29 family and exhibits a barrel-fold architecture, with catalytic activity reliant on conserved nucleophile and acid/base residues[1][4]. Variant isoforms exist in microbes, but the human enzyme’s clinical significance stems primarily from its role in cellular metabolism and inherited disease, with ongoing research into biomarker and biotechnological applications.

Other names

FUCA1Alpha-L-fucosidase isoenzyme 1α-L-fucosidase 1EC 3.2.1.51

Inhibitors (if developed) would block L-fucose cleavage, causing increased glycan accumulation; enzyme replacement or gene therapy aims to restore function in deficient patients.