PEX39
Peroxisomal Biogenesis Factor 39
Gene Information Card
| Symbol | PEX39 |
|---|---|
| Full Name | Peroxisomal Biogenesis Factor 39 |
| Gene Type | Protein-coding |
| Chromosomal Location | 2q14.3 |
| NCBI Gene ID | 100506334 ncbi.nlm.nih.gov/gene/100506334 |
| Ensembl ID | ENSG00000204176 |
| UniProt ID | Q6P1M0 |
| OMIM ID | 618793 |
| HGNC ID | HGNC:33738 |
| Aliases | FLJ90652, MGC16384 |
Description
PEX39 encodes a peroxisomal membrane protein involved in peroxisome biogenesis. It is part of the peroxin family, which mediates import of matrix proteins into peroxisomes. Mutations in PEX39 are associated with peroxisome biogenesis disorders, including Zellweger syndrome spectrum.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Zellweger syndrome | Loss of PEX39 function disrupts peroxisomal matrix protein import, leading to defective peroxisome assembly and metabolic abnormalities. | OMIM #618793; ClinVar pathogenic variants |
| Peroxisome biogenesis disorder 14B | Biallelic PEX39 mutations impair peroxisomal membrane assembly, causing a milder phenotype with hypotonia and developmental delay. | OMIM #618793; PubMed case reports |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 8.2 | Medium |
| Kidney | 6.5 | Medium |
| Brain | 4.1 | Low |
| Heart | 3.8 | Low |
| Testis | 2.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 7.1 | Hepatocellular carcinoma line |
| HEK293 | 5.4 | Embryonic kidney line |
| SH-SY5Y | 3.2 | Neuroblastoma line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense/start loss | Rare | Loss of translation initiation; likely loss of function |
| c.124C>T (p.Arg42*) | Nonsense | Rare | Premature stop; loss of function |
| c.287_288del (p.Leu96fs) | Frameshift | Rare | Frameshift and truncation; loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported PEX39 mutations are loss-of-function (nonsense, frameshift, start loss), leading to peroxisomal biogenesis defects.
Gain of Function (GOF)
No gain-of-function mutations reported for PEX39.
Dominant Negative (DN)
No dominant-negative mutations reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • Peroxisome | • Peroxisomal membrane |
| • Protein import into peroxisome matrix | • Peroxisome biogenesis |
Pathways
• Peroxisomal protein import
• Peroxisome biogenesis
Protein Summary
PEX39 is a 39 kDa peroxisomal membrane protein that functions as a docking factor for the PEX5 receptor, facilitating import of peroxisomal matrix proteins. It is essential for normal peroxisome assembly and metabolic function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PEX39 Knockout HEK293 Cell Line | EDJ-KQ12633 | Human | 441150 | 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 |
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