| Primary Identifier | MGI:1321392 | Organism | mouse, laboratory |
| Chromosome | 10 | NCBI Gene Number | 18634 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable enzyme binding activity; peroxisome matrix targeting signal-2 binding activity; and protein homodimerization activity. Involved in protein import into peroxisome matrix. Acts upstream of or within several processes, including endochondral ossification; fatty acid beta-oxidation; and protein targeting to peroxisome. Located in cytosol. Is expressed in 2-cell stage embryo and 4-cell stage embryo. Used to study rhizomelic chondrodysplasia punctata type 1. Human ortholog(s) of this gene implicated in Peroxisome biogenesis disorder 9B and rhizomelic chondrodysplasia punctata type 1. Orthologous to human PEX7 (peroxisomal biogenesis factor 7). PHENOTYPE: Mice homozygous for mutations in this gene, are petite with cataracts and have delayed ossification and fertility defects. Additionally, mice have biochemical defects in plasmalogen biosynthesis. [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
