| Primary Identifier | MGI:1098808 | Organism | mouse, laboratory |
| Chromosome | 6 | NCBI Gene Number | 19305 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable peroxisome targeting sequence binding activity; protein carrier chaperone; and small GTPase binding activity. Involved in protein import into peroxisome matrix. Acts upstream of or within several processes, including fatty acid metabolic process; mitochondrial membrane organization; and nervous system development. Predicted to be located in Golgi apparatus; membrane; and peroxisome. Predicted to be part of protein-containing complex. Predicted to be active in cytosol; peroxisomal matrix; and peroxisomal membrane. Is expressed in central nervous system; dorsal root ganglion; genitourinary system; inner ear; and liver. Human ortholog(s) of this gene implicated in peroxisome biogenesis disorder 2A; peroxisome biogenesis disorder 2B; and rhizomelic chondrodysplasia punctata type 5. Orthologous to human PEX5 (peroxisomal biogenesis factor 5). PHENOTYPE: Homozygotes for a targeted null mutation exhibit reduced size, muscle weakness, respiratory distress, and retarded development and defects of the kidney, liver, brain, and intestine associated with lack of peroxisomes, and die within 3-4 days of birth. [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
