Primary Identifier | MGI:95593 | Organism | mouse, laboratory |
Chromosome | 4 | NCBI Gene Number | 71665 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable alpha-L-fucosidase activity and carbohydrate binding activity. Predicted to be involved in fucose metabolic process and glycoside catabolic process. Predicted to be located in intracellular membrane-bounded organelle. Predicted to be active in lysosome. Is expressed in several structures, including alimentary system; brain; cranium; genitourinary system; and heart. Used to study fucosidosis. Human ortholog(s) of this gene implicated in fucosidosis. Orthologous to human FUCA1 (alpha-L-fucosidase 1). PHENOTYPE: Strain differences are probably due to a structural variant in Fuca1. Strains A/J, BDP, LP, P, SEA/Gn and 129/J have high FUCA activity and high heat stability; C57BL/6, C3H/He, DBA/2, BALB/c and 22 other strains have low activity and low heat stability. [provided by MGI curators] |