Gene
pex5
- ID
- ZDB-GENE-040426-981
- Name
- peroxisomal biogenesis factor 5
- Symbol
- pex5 Nomenclature History
- Previous Names
-
- zgc:56318
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Predicted to have peroxisome matrix targeting signal-1 binding activity. Predicted to be involved in protein import into peroxisome matrix, docking. Predicted to localize to cytosol and peroxisomal membrane. 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).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 3 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:56318 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
peroxisome biogenesis disorder 2A | Alliance | Peroxisome biogenesis disorder 2A (Zellweger) | 214110 |
peroxisome biogenesis disorder 2B | Alliance | Peroxisome biogenesis disorder 2B | 202370 |
rhizomelic chondrodysplasia punctata type 5 | Alliance | Rhizomelic chondrodysplasia punctata, type 5 | 616716 |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | PEX5/PEX5L | Tetratricopeptide-like helical domain superfamily | Tetratricopeptide repeat |
---|---|---|---|---|
UniProtKB:Q7ZUZ1
|
600 | |||
UniProtKB:A0A8M3AHU4
|
645 | |||
UniProtKB:A0A8M3B1G9
|
416 |
Interactions and Pathways
No data available
Plasmids
No data available