Pex1 Gene Peroxisome Biogenesis Factor 1 is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
PEX1 (Peroxisome Biogenesis Factor 1) encodes a member of the AAA ATPase family essential for peroxisome biogenesis. Peroxisomes are essential organelles for fatty acid oxidation, plasmalogen synthesis, and reactive oxygen species metabolism.
PEX1 is a gene/protein encoding a key neuronal protein involved in synaptic function, signal transduction, and cellular homeostasis. Dysfunction of PEX1 is associated with neurodegenerative diseases including Alzheimer's disease, Parkinson's disease, and related disorders.
| Property | Value |
|---|---|
| Gene Symbol | PEX1 |
| Full Name | Peroxisome Biogenesis Factor 1 |
| Chromosomal Location | 7q31.2 |
| NCBI Gene ID | 5279 |
| Ensembl ID | ENSG00000127980 |
| UniProt ID | P50579 |
PEX1 encodes an ATPase belonging to the AAA (ATPases Associated with diverse cellular Activities) family. It forms a complex with PEX6 and plays a critical role in importing matrix proteins into peroxisomes. The PEX1-PEX6 complex is involved in recycling peroxisomal targeting receptors (PEX5 and PEX7) from the peroxisomal membrane back to the cytosol [1].
Pex1p uses ATP hydrolysis to generate mechanical force for unfolding misfolded proteins and facilitating their translocation across the peroxisomal membrane. This AAA+ ATPase activity is essential for the import of proteins containing peroxisomal targeting signals (PTS1 and PTS2) into the peroxisomal matrix [2].
Mutations in PEX1 cause Zellweger spectrum disorders, a group of autosomal recessive peroxisome biogenesis disorders (PBDs) that include [3]:
These disorders are characterized by:
Peroxisomal dysfunction contributes to several neurodegenerative conditions [4]:
PEX1 is ubiquitously expressed with high expression in:
Research into therapies for peroxisome biogenesis disorders includes [5]:
The study of Pex1 Gene Peroxisome Biogenesis Factor 1 has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
Page updated: 2026-03-05