Primary Identifier | MGI:107486 | Organism | mouse, laboratory |
Chromosome | 3 | NCBI Gene Number | 19302 |
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. Involved in peroxisome organization. Acts upstream of or within several processes, including bile acid biosynthetic process; cholesterol homeostasis; and regulation of cholesterol biosynthetic process. Predicted to be located in peroxisome. Predicted to be part of Cdc73/Paf1 complex. Predicted to be active in peroxisomal membrane. Is expressed in several structures, including central nervous system and genitourinary system. Human ortholog(s) of this gene implicated in Peroxisome biogenesis disorder 5B and peroxisome biogenesis disorder 5A. Orthologous to human PEX2 (peroxisomal biogenesis factor 2). PHENOTYPE: Mice homozygous for disruptions in this gene die sometime before weaning. Various abnormalities are seen in the central nervous system depending on the genetic background. [provided by MGI curators] |