Primary Identifier | MGI:2685847 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 381375 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Involved in several processes, including pexophagy; programmed cell death in response to reactive oxygen species; and regulation of peroxisome organization. Acts upstream of or within detection of mechanical stimulus involved in sensory perception of sound and stereocilium maintenance. Located in several cellular components, including cytoskeleton; peroxisomal membrane; and stereocilium base. Used to study autosomal recessive nonsyndromic deafness 59. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 59. Orthologous to human PJVK (pejvakin). PHENOTYPE: Mice homozygous for a point mutation display increased auditory thresholds. [provided by MGI curators] |