UniProt Protein Function: | 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. |
UniProt Protein Details: | Protein type:EC 3.2.1.51; Glycan Metabolism - other glycan degradation; Hydrolase Chromosomal Location of Human Ortholog: 4 D3|4 68.01 cM Cellular Component: lysosome Molecular Function:alpha-L-fucosidase activity; carbohydrate binding; fucosidase activity; hydrolase activity; hydrolase activity, acting on glycosyl bonds Biological Process: carbohydrate metabolic process; fucose metabolic process; glycoside catabolic process; metabolic process |
UniProt Code: | Q99LJ1 |
NCBI GenInfo Identifier: | 169808427 |
NCBI Gene ID: | 71665 |
NCBI Accession: | NP_077205.3 |
UniProt Secondary Accession: | Q99LJ1,Q3UAH8, Q8BN13, Q9DD22, B1AV51, |
UniProt Related Accession: | Q99LJ1 |
Molecular Weight: | 52,281 Da |
NCBI Full Name: | tissue alpha-L-fucosidase |
NCBI Synonym Full Names: | fucosidase, alpha-L- 1, tissue |
NCBI Official Symbol: | Fuca1 |
NCBI Official Synonym Symbols: | Afuc; Fuca; 0610006A03Rik; 9530055J05Rik |
NCBI Protein Information: | tissue alpha-L-fucosidase |
UniProt Protein Name: | Tissue alpha-L-fucosidase |
UniProt Synonym Protein Names: | Alpha-L-fucosidase I; Alpha-L-fucoside fucohydrolase 1; Alpha-L-fucosidase 1 |
Protein Family: | Tissue alpha-L-fucosidase |
UniProt Gene Name: | Fuca1 |