Primary Identifier | MGI:107286 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 17159 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables alpha-mannosidase activity. Involved in oligosaccharide catabolic process. Acts upstream of or within learning or memory and mannose metabolic process. Is active in lysosomal lumen. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and sensory organ. Used to study alpha-mannosidosis. Human ortholog(s) of this gene implicated in alpha-mannosidosis. Orthologous to human MAN2B1 (mannosidase alpha class 2B member 1). PHENOTYPE: Mice homozygous for a knock-out allele show urinary oligosaccharide excretion, storage of neutral sugars, oligosaccharide buildup in spleen, kidney, liver, testis and brain, clear vacuoles and axonal spheroids in CNS, PNS and other cell types, behavioralchanges, and enhanced long-term potentiation. [provided by MGI curators] |