| Primary Identifier | MGI:1918632 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 71382 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including ATP binding activity; ATP hydrolysis activity; and ubiquitin-modified protein reader activity. Predicted to be involved in establishment of protein localization to peroxisome; microtubule-based peroxisome localization; and protein unfolding. Located in peroxisome. Used to study Zellweger syndrome. Human ortholog(s) of this gene implicated in Heimler syndrome 1; peroxisome biogenesis disorder 1A; and peroxisome biogenesis disorder 1B. Orthologous to human PEX1 (peroxisomal biogenesis factor 1). PHENOTYPE: Mice homozygous for a knock-in allele display premature death, postnatal growth retardation, fatty livers, a bile acid defect associated with intestinal lipid malabsorption and cholestasis, and a retinopathy associated with retinal cone cell degenerationand abnormal cone and rod electrophysiology. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
