Viewing Gene With DrugMatrix Data


Gene Data From HGNC: https://www.genenames.org/download/statistics-and-files/

Symbol: FUCA1
Name: alpha-L-fucosidase 1
Location: 01p36.11
Locus Group: protein-coding gene
Gene Type: Protein Coding
Locus Type: gene with protein product

DrugMatrix Data: https://cebs.niehs.nih.gov/cebs/paper/15670
DrugMatrix Gene Data For: 1 Matched Gene
Gene Name: fucosidase, alpha-L- 1, tissue
Symbol:
Species: 1000
Description: Fucosidosis is an autosomal recessive lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues. Different phenotypes include clinical features such as neurologic deterioration, growth retardation, visceromegaly, and seizures in a severe early form; coarse facial features, angiokeratoma corporis diffusum, spasticity and delayed psychomotor development in a longer surviving form; and an unusual spondylometaphyseoepiphyseal dysplasia in yet another form.[supplied by OMIM]