PEX3 Gene - Peroxisomal Biogenesis Factor 3
Essential for peroxisome membrane assembly and implicated in Zellweger syndrome spectrum disorders
Gene Information Card
| Symbol | PEX3 |
|---|---|
| Full Name | Peroxisomal Biogenesis Factor 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q24.2 |
| NCBI Gene ID | 8504 ncbi.nlm.nih.gov/gene/8504 |
| Ensembl ID | ENSG00000034693 |
| UniProt ID | P56589 |
| OMIM ID | 601164 |
| HGNC ID | 8858 |
| Aliases | PBD1A, TRG18 |
Description
The PEX3 gene encodes a peroxin protein essential for the early stages of peroxisome biogenesis. PEX3 is a peroxisomal membrane protein that, along with PEX19, is required for the insertion of other peroxisomal membrane proteins into the peroxisomal membrane. Mutations in PEX3 cause peroxisome biogenesis disorder type 1A (PBD1A), a severe form of Zellweger syndrome spectrum, characterized by the absence of functional peroxisomes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Zellweger syndrome (PBD1A) | Loss-of-function mutations in PEX3 lead to defective peroxisomal membrane assembly, resulting in the absence of peroxisomes and accumulation of very long-chain fatty acids and other metabolites. | ClinVar, OMIM |
| Peroxisome biogenesis disorder 1A | Biallelic mutations in PEX3 cause a severe phenotype with craniofacial abnormalities, neurological impairment, and hepatic dysfunction. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.4 | Medium |
| Kidney | 9.8 | Low |
| Brain | 7.2 | Low |
| Heart | 6.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.3 | Hepatocellular carcinoma cell line |
| A549 | 8.1 | Lung carcinoma |
| HeLa | 7.4 | Cervical adenocarcinoma |
| K562 | 5.2 | Chronic myelogenous leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.296G>A (p.Trp99Ter) | Nonsense | Rare | Premature stop codon leading to truncated protein and loss of function |
| c.1A>G (p.Met1Val) | Missense | Rare | Disrupts translation initiation, resulting in absent protein |
| c.511C>T (p.Arg171Ter) | Nonsense | Rare | Truncated protein, loss of peroxisomal membrane assembly function |
Mutation functional classification
Loss of Function (LOF)
Most PEX3 mutations are loss-of-function, leading to absence of functional peroxisomes and severe PBD.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not reported; PEX3 mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • peroxisomal membrane | • protein targeting to peroxisome |
| • peroxisome organization | • protein insertion into peroxisomal membrane |
Pathways
• Peroxisome biogenesis
• Peroxisomal protein import
Protein Summary
PEX3 is a 42 kDa peroxisomal membrane protein with a C-terminal RING finger domain. It is anchored to the peroxisomal membrane via its N-terminal transmembrane domain. PEX3 interacts with PEX19 in the cytosol to facilitate the import of peroxisomal membrane proteins. It is essential for the formation of pre-peroxisomal vesicles and the maintenance of peroxisome number.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PEX3 Knockout HEK293 Cell Line | EDJ-KQ6260 | Human | 8504 | Details Get a Quote |
| PEX39 Knockout HEK293 Cell Line | EDJ-KQ12633 | Human | 441150 | Details Get a Quote |
| PEX3 Knockout HCT 116 Cell Line | EDJ-KQ30140 | Human | 8504 | Details Get a Quote |
| PEX3 Knockout HeLa Cell Line | EDJ-KQ30141 | Human | 8504 | Details Get a Quote |
| PEX3 Knockout A-549 Cell Line | EDJ-KQ28829 | Human | 8504 | Details Get a Quote |
| PEX39 Knockout HeLa Cell Line | EDJ-KQ40408 | Human | 441150 | Details Get a Quote |
| PEX39 Knockout A-549 Cell Line | EDJ-KQ41698 | Human | 441150 | Details Get a Quote |
| PEX39 Knockout HCT 116 Cell Line | EDJ-KQ41699 | Human | 441150 | Details Get a Quote |
Displaying Records 1 To 8 Of 8 Records
