PEX10
Peroxisomal Biogenesis Factor 10
Gene Information Card
| Symbol | PEX10 |
|---|---|
| Full Name | Peroxisomal Biogenesis Factor 10 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.32 |
| NCBI Gene ID | 5192 ncbi.nlm.nih.gov/gene/5192 |
| Ensembl ID | ENSG00000157911 |
| UniProt ID | O60683 |
| OMIM ID | 602859 |
| HGNC ID | 8854 |
| Aliases | RNF69, peroxin-10, peroxisome biogenesis disorder 6A (Zellweger) |
Description
PEX10 encodes a peroxisomal membrane protein that functions as a RING finger ubiquitin ligase essential for peroxisomal matrix protein import. It is a component of the peroxisomal importomer complex, mediating the recycling of the PTS1 receptor PEX5 from the peroxisomal membrane to the cytosol. Mutations in PEX10 cause peroxisome biogenesis disorders of the Zellweger syndrome spectrum.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Peroxisome biogenesis disorder 6A (Zellweger) | Loss-of-function mutations impair PEX5 recycling, blocking peroxisomal matrix protein import and leading to severe peroxisomal dysfunction. | ClinVar, OMIM |
| Peroxisome biogenesis disorder 6B | Hypomorphic mutations result in milder phenotypes with residual peroxisomal function. | ClinVar, OMIM |
| Zellweger syndrome | Complete loss of PEX10 function causes severe neonatal hypotonia, seizures, facial dysmorphism, and hepatic/renal cysts. | OMIM, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 8.7 | Medium |
| Brain | 5.2 | Low |
| Heart | 4.1 | Low |
| Testis | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.5 | Hepatocellular carcinoma cell line |
| HEK 293 | 6.2 | Embryonic kidney cells |
| SH-SY5Y | 4.9 | Neuroblastoma cell line |
| HeLa | 3.7 | Cervical carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, no protein produced |
| c.832C>T (p.Arg278*) | Nonsense | <0.01% | Premature stop, truncated protein |
| c.907G>A (p.Gly303Arg) | Missense | <0.01% | Impaired ubiquitin ligase activity |
| c.1135C>T (p.Arg379Trp) | Missense | <0.01% | Reduced PEX5 recycling |
Mutation functional classification
Loss of Function (LOF)
Most PEX10 mutations are loss-of-function, leading to peroxisome biogenesis disorders.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Peroxisomal protein import (Reactome: R-HSA-9033241)
• Ubiquitin-mediated proteolysis (KEGG: hsa04120)
Protein Summary
PEX10 is a 379-amino acid peroxisomal membrane protein containing a RING-type zinc finger domain that confers E3 ubiquitin ligase activity. It localizes to the peroxisomal membrane and interacts with other peroxins (PEX2, PEX12) to form the RING finger complex essential for ubiquitination and recycling of the PTS1 receptor PEX5. This process is critical for the import of peroxisomal matrix proteins. Defects in PEX10 disrupt peroxisome biogenesis, leading to accumulation of very long-chain fatty acids and other metabolic abnormalities characteristic of Zellweger spectrum disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PEX10 Knockout HEK293 Cell Line | EDJ-KQ5440 | Human | 5192 | Details Get a Quote |
| PEX10 Knockout A-549 Cell Line | EDJ-KQ28623 | Human | 5192 | Details Get a Quote |
| PEX10 Knockout HCT 116 Cell Line | EDJ-KQ28624 | Human | 5192 | Details Get a Quote |
| PEX10 Knockout HeLa Cell Line | EDJ-KQ28625 | Human | 5192 | Details Get a Quote |
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