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 7.0.0) 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 act upstream of or within lipid metabolic 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] |