Primary Identifier | MGI:2446216 | Organism | mouse, laboratory |
Chromosome | 4 | NCBI Gene Number | 230904 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables amyloid-beta binding activity; carbohydrate binding activity; and denatured protein binding activity. Involved in protein catabolic process; protein ubiquitination; and regulation of protein catabolic process at postsynapse, modulating synaptic transmission. Acts upstream of or within ERAD pathway; regulation of protein ubiquitination; and ubiquitin-dependent protein catabolic process. Located in cytosol and dendritic spine. Part of SCF ubiquitin ligase complex. Is active in glutamatergic synapse. Is expressed in brain; testis; and vestibulo-cochlear ganglion. Orthologous to human FBXO2 (F-box protein 2). PHENOTYPE: Homozygotes for a targeted mutation are behaviorally normal but display accelerated, age-related hearing loss associated with cochlear degeneration. Cellular degeneration begins at 2 months in the supporting cells of the organ of Corti and progresses to cochlear hair cells and the spiral ganglion. [provided by MGI curators] |