PEX26
Peroxisomal Biogenesis Factor 26
Gene Information Card
| Symbol | PEX26 |
|---|---|
| Full Name | Peroxisomal Biogenesis Factor 26 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q11.21 |
| NCBI Gene ID | 55670 ncbi.nlm.nih.gov/gene/55670 |
| Ensembl ID | ENSG00000100298 |
| UniProt ID | Q7Z412 |
| OMIM ID | 608666 |
| HGNC ID | 22965 |
| Aliases | PEX26, PBD7A, PBD7B, PEX26_HUMAN |
Description
PEX26 encodes a peroxisomal membrane protein that is essential for peroxisome biogenesis. It functions as a receptor for the PEX1-PEX6 AAA ATPase complex, which is required for the import of peroxisomal matrix proteins. Mutations in PEX26 cause peroxisome biogenesis disorders of complementation group 7 (CG7), including Zellweger syndrome spectrum (ZSS) and neonatal adrenoleukodystrophy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Zellweger syndrome spectrum (ZSS) | Loss-of-function mutations in PEX26 impair peroxisomal matrix protein import, leading to defective peroxisome biogenesis and accumulation of very long-chain fatty acids. | ClinVar, OMIM |
| Neonatal adrenoleukodystrophy | Mutations in PEX26 cause a milder form of peroxisome biogenesis disorder with impaired peroxisomal function. | OMIM |
| Peroxisome biogenesis disorder 7A (PBD7A) | Biallelic PEX26 mutations disrupt PEX1-PEX6 complex recruitment, blocking peroxisomal protein import. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Heart | 8.9 | Medium |
| Brain | 6.3 | Low |
| Lung | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.3 | Hepatocellular carcinoma cell line |
| HEK293 | 11.8 | Embryonic kidney cells |
| HeLa | 9.4 | Cervical adenocarcinoma cells |
| A549 | 7.2 | Lung carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.292C>T (p.Arg98Trp) | Missense | Common in PBD7A | Loss of function; disrupts PEX1-PEX6 binding |
| c.1A>G (p.Met1Val) | Missense | Rare | Loss of start codon; no protein produced |
| c.658C>T (p.Arg220*) | Nonsense | Rare | Premature stop; truncated protein |
Mutation functional classification
Loss of Function (LOF)
Most PEX26 mutations are loss-of-function, impairing peroxisomal matrix protein import and causing peroxisome biogenesis disorders.
Gain of Function (GOF)
No gain-of-function mutations reported for PEX26.
Dominant Negative (DN)
No dominant-negative mutations reported; PEX26 disorders are autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • peroxisomal membrane (GO:0005778) | • protein binding (GO:0005515) |
| • protein import into peroxisome matrix (GO:0016558) | • peroxisome organization (GO:0007031) |
| • integral component of peroxisomal membrane (GO:0005779) |
Pathways
• Peroxisomal protein import (Reactome: R-HSA-9033241)
• Peroxisome biogenesis (KEGG: hsa04146)
Protein Summary
PEX26 is a 305-amino acid peroxisomal membrane protein with a single transmembrane domain. It anchors the PEX1-PEX6 AAA ATPase complex to the peroxisomal membrane, enabling the import of peroxisomal matrix proteins. The N-terminal region interacts with PEX6, while the C-terminal domain is exposed to the cytosol. Defects in PEX26 lead to impaired peroxisome biogenesis and metabolic dysfunction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PEX26 Knockout HEK293 Cell Line | EDJ-KQ14732 | Human | 55670 | Details Get a Quote |
| PEX26 Knockout A-549 Cell Line | EDJ-KQ45076 | Human | 55670 | Details Get a Quote |
| PEX26 Knockout HCT 116 Cell Line | EDJ-KQ45077 | Human | 55670 | Details Get a Quote |
| PEX26 Knockout HeLa Cell Line | EDJ-KQ45078 | Human | 55670 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
