FUCA1 Antibody – Rabbit Polyclonal

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]

FUCA1: Alpha-L-fucosidase is responsible for hydrolyzing the alpha-1,6-linked fucose joined to the reducing-end N- acetylglucosamine of the carbohydrate moieties of glycoproteins. Defects in FUCA1 are the cause of fucosidosis (FUCA1D). FUCA1D is an autosomal recessive lysosomal storage disease characterized by accumulation of fucose-containing glycolipids and glycoproteins in various tissues. Clinical signs include facial dysmorphism, dysostosis multiplex, moderate hepatomegaly, severe intellectual deficit, deafness, and according to age, angiokeratomas. Belongs to the glycosyl hydrolase 29 family.

Protein type: EC 3.2.1.51; Glycan Metabolism - other glycan degradation; Hydrolase

Chromosomal Location of Human Ortholog: 1p34

Cellular Component: cytoplasm; lysosomal lumen

Molecular Function: alpha-L-fucosidase activity

Biological Process: fucose metabolic process; glycoside catabolic process

Disease: Fucosidosis