Version: 8.0.0Date: Tue Jan 28 2025
Gene
PEX5
- Species
- Homo sapiens
- Symbol
- PEX5
- Name
- peroxisomal biogenesis factor 5
- Synonyms
- FLJ50634
- FLJ50721
- Biotype
- protein coding gene
- Automated Description
- Enables peroxisome targeting sequence binding activity; protein carrier chaperone; and small GTPase binding activity. Involved in several processes, including establishment of protein localization to peroxisome; pexophagy; and protein tetramerization. Located in Golgi apparatus; membrane; and peroxisome. Part of protein-containing complex. Is active in cytosol and peroxisomal matrix. Implicated in peroxisome biogenesis disorder 2A; peroxisome biogenesis disorder 2B; and rhizomelic chondrodysplasia punctata type 5.
- RGD Description
- The product of this gene binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of neonatal adrenoleukodystrophy (NALD), a cause of Zellweger syndrome (ZWS) as well as may be a cause of infantile Refsum disease (IRD). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR10130
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr12:7188653...7218574 + (29.92 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.