Primary Identifier | MGI:2684988 | Organism | mouse, laboratory |
Chromosome | 4 | NCBI Gene Number | 668173 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable ubiquitin protein ligase activity. Predicted to be involved in cellular response to reactive oxygen species; protein import into peroxisome matrix, receptor recycling; and protein polyubiquitination. Predicted to be located in peroxisome. Predicted to be active in peroxisomal membrane. Is expressed in dorsal grey horn; medulla oblongata alar plate mantle layer; medulla oblongata basal plate mantle layer; midbrain mantle layer; and pons mantle layer. Human ortholog(s) of this gene implicated in Peroxisome biogenesis disorder 6B and peroxisome biogenesis disorder 6A. Orthologous to human PEX10 (peroxisomal biogenesis factor 10). PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit partial neonatal mortality due to respiratory distress, loss of embryonic movement, and prenatal pathology including altered biochemistry, defects in axonal integrity, decreased Schwann cell number, and defects at the neuromuscular junction. [provided by MGI curators] |