PEX5 Gene - Peroxisomal Biogenesis Factor 5
Genetic insights into PEX5: function, associated diseases, expression, and mutations
Gene Information Card
| Symbol | PEX5 |
|---|---|
| Full Name | Peroxisomal biogenesis factor 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 12p13.31 |
| NCBI Gene ID | 5830 ncbi.nlm.nih.gov/gene/5830 |
| Ensembl ID | ENSG00000124562 |
| UniProt ID | P50542 |
| OMIM ID | 600414 |
| HGNC ID | 8859 |
| Aliases | PTS1R, PXR1 |
Description
PEX5 encodes peroxisomal biogenesis factor 5, a cytosolic receptor that recognizes peroxisomal targeting signal type 1 (PTS1) on cargo proteins and delivers them to the peroxisomal membrane for import. It is essential for peroxisome function, and mutations cause peroxisome biogenesis disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Zellweger syndrome | Loss-of-function mutations in PEX5 impair PTS1 protein import, leading to defective peroxisome assembly and multiple metabolic abnormalities. | ClinVar, OMIM |
| Neonatal adrenoleukodystrophy | Mutations in PEX5 cause a milder form of peroxisome biogenesis disorder with similar mechanistic basis. | OMIM |
| Infantile Refsum disease | PEX5 mutations result in reduced peroxisomal import, leading to accumulation of very long-chain fatty acids and phytanic acid. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 15.2 | Medium |
| Kidney | 10.5 | Medium |
| Brain | 8.3 | Low |
| Heart | 7.1 | Low |
| Testis | 12.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 18.4 | Liver cancer cell line, high expression |
| A549 | 9.2 | Lung carcinoma, moderate expression |
| HeLa | 11.0 | Cervical adenocarcinoma, moderate expression |
| K562 | 6.5 | Chronic myelogenous leukemia, low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2097delT | Frameshift | Rare | Loss of function, causes Zellweger syndrome |
| p.Arg332Trp | Missense | Rare | Impaired PTS1 binding, associated with peroxisome biogenesis disorder |
| p.Gly516Arg | Missense | Rare | Disrupts receptor function, leads to defective import |
Mutation functional classification
Loss of Function (LOF)
Most PEX5 mutations are loss-of-function, leading to impaired peroxisomal protein import and peroxisome biogenesis disorders.
Gain of Function (GOF)
No gain-of-function mutations have been reported for PEX5.
Dominant Negative (DN)
No dominant-negative effects have been documented; PEX5 mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • peroxisome | • peroxisomal targeting signal receptor activity |
| • protein import into peroxisome matrix | • cytosol |
| • peroxisomal membrane |
Pathways
• Peroxisomal protein import
• Peroxisome biogenesis
Protein Summary
PEX5 is a 71 kDa cytosolic receptor that binds PTS1-containing proteins in the cytosol and delivers them to the peroxisomal membrane, where they are translocated into the matrix. It contains multiple tetratricopeptide repeat (TPR) domains that mediate PTS1 recognition. Defects in PEX5 lead to peroxisome biogenesis disorders, including Zellweger syndrome spectrum.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PEX5 Knockout HEK293 Cell Line | EDJ-KQ1075 | Human | 5830 | Details Get a Quote |
| PEX5L Knockout HEK293 Cell Line | EDJ-KQ11142 | Human | 51555 | Details Get a Quote |
| PEX5 Knockout HCT 116 Cell Line | EDJ-KQ20211 | Human | 5830 | Details Get a Quote |
| PEX5 Knockout HeLa Cell Line | EDJ-KQ20212 | Human | 5830 | Details Get a Quote |
| PEX5 Knockout A-549 Cell Line | EDJ-KQ18865 | Human | 5830 | Details Get a Quote |
| PEX5L Knockout HeLa Cell Line | EDJ-KQ56327 | Human | 51555 | Details Get a Quote |
| PEX5L Knockout A-549 Cell Line | EDJ-KQ64815 | Human | 51555 | Details Get a Quote |
| PEX5L Knockout HCT 116 Cell Line | EDJ-KQ73259 | Human | 51555 | Details Get a Quote |
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