PEX6
Peroxisomal Biogenesis Factor 6
Gene Information Card
| Symbol | PEX6 |
|---|---|
| Full Name | Peroxisomal Biogenesis Factor 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.1 |
| NCBI Gene ID | 5190 ncbi.nlm.nih.gov/gene/5190 |
| Ensembl ID | ENSG00000124587 |
| UniProt ID | Q13608 |
| OMIM ID | 601498 |
| HGNC ID | 8859 |
| Aliases | PAF-2, PAF2, PBD4A, PBD4B, PEX6-1, PEX6-2 |
Description
PEX6 encodes a member of the AAA ATPase family, peroxisomal biogenesis factor 6, which is essential for peroxisomal matrix protein import. It forms a heteromeric complex with PEX1 and is involved in the recycling of the peroxisomal import receptor PEX5 from the peroxisomal membrane to the cytosol. Mutations in PEX6 cause peroxisome biogenesis disorders (PBDs), including Zellweger syndrome spectrum.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Zellweger syndrome (ZS) | Defective peroxisomal matrix protein import due to impaired PEX5 recycling; loss of PEX6 function leads to peroxisomal metabolic dysfunction | ClinVar, OMIM |
| Neonatal adrenoleukodystrophy (NALD) | Milder PBD variant with residual PEX6 activity; impaired peroxisomal beta-oxidation | ClinVar, OMIM |
| Infantile Refsum disease (IRD) | Mildest PBD form; partial PEX6 dysfunction reduces peroxisomal metabolite processing | ClinVar, OMIM |
| Peroxisome biogenesis disorder 4A (PBD4A) | Autosomal recessive; PEX6 mutations cause Zellweger syndrome spectrum | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 9.8 | Medium |
| Heart | 7.5 | Low |
| Brain | 6.2 | Low |
| Testis | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.2 | Hepatocellular carcinoma cell line |
| HEK 293 | 11.5 | Embryonic kidney cells |
| HeLa | 8.9 | Cervical carcinoma cells |
| K-562 | 6.3 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1801C>T (p.Arg601Trp) | Missense | 0.02% (gnomAD) | Loss of ATPase activity; impaired PEX1 binding |
| c.2097_2098del (p.Glu699Aspfs*3) | Frameshift | Rare | Premature truncation; complete loss of function |
| c.802C>T (p.Arg268*) | Nonsense | Rare | Nonsense-mediated decay; null allele |
| c.1992G>A (p.Trp664*) | Nonsense | Rare | Truncated protein; severe PBD phenotype |
Mutation functional classification
Loss of Function (LOF)
Most PEX6 mutations are loss-of-function, leading to defective peroxisomal matrix protein import and peroxisome biogenesis disorders.
Gain of Function (GOF)
No gain-of-function mutations reported for PEX6.
Dominant Negative (DN)
No dominant-negative mutations reported; PEX6 disorders are autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • ATP hydrolysis activity |
| • peroxisomal matrix protein import | • peroxisome organization |
| • protein homooligomerization | • PEX5 receptor recycling |
Pathways
• Peroxisomal protein import (Reactome: R-HSA-9033241)
• Peroxisome biogenesis (KEGG: hsa04146)
Protein Summary
PEX6 is a 980-amino-acid AAA ATPase that localizes to the peroxisomal membrane. It forms a heterohexameric complex with PEX1, using ATP hydrolysis to drive the extraction and recycling of PEX5 from the peroxisomal membrane after cargo delivery. This recycling step is critical for continuous import of peroxisomal matrix proteins. Defects in PEX6 disrupt peroxisomal function, leading to accumulation of very long-chain fatty acids and other metabolites.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PEX6 Knockout HEK293 Cell Line | EDJ-KQ5449 | Human | 5190 | Details Get a Quote |
| PEX6 Knockout A-549 Cell Line | EDJ-KQ28636 | Human | 5190 | Details Get a Quote |
| PEX6 Knockout HCT 116 Cell Line | EDJ-KQ28637 | Human | 5190 | Details Get a Quote |
| PEX6 Knockout HeLa Cell Line | EDJ-KQ28638 | Human | 5190 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
