Primary Identifier | MGI:2139607 | Organism | Mus musculus |
Chromosome | 3 | NCBI Gene Number | 99526 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 3.2) Predicted to have thiol-dependent ubiquitin-specific protease activity. Involved in several processes, including neuron apoptotic process; response to auditory stimulus; and sensory perception of sound. Localizes to cell-cell junction. Is expressed in olfactory epithelium; submandibular gland primordium; and tooth. Orthologous to human USP53 (ubiquitin specific peptidase 53). PHENOTYPE: Homozygotes for an ENU-induced allele show progressive hearing loss associated with altered cochlear outer hair cell (OHC) morphology, reduced endocochlear potential, and early OHC loss followed by IHC and spiral ganglion degeneration. Heterozygotes are susceptible to noise-induced hearing loss. [provided by MGI curators] |