Primary Identifier | MGI:88175 | Organism | mouse, laboratory |
Chromosome | 3 | NCBI Gene Number | 110173 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables beta-mannosidase activity. Involved in glycoprotein catabolic process and oligosaccharide catabolic process. Located in extracellular space. Is active in lysosomal lumen. Is expressed in several structures, including alimentary system; central nervous system; ear; genitourinary system; and heart. Used to study beta-mannosidosis. Human ortholog(s) of this gene implicated in beta-mannosidosis. Orthologous to human MANBA (mannosidase beta). PHENOTYPE: Homozygous mutation results in no dysmorphology or overt neurological problems. Homozygotes show no beta-mannosidase activity and display consistent cytoplasmic vacuolation in the central nervous system and minimal vacuolation in most visceral organs. [provided by MGI curators] |