PAOX Gene: Polyamine Oxidase
A key enzyme in polyamine catabolism, involved in cellular homeostasis and linked to cancer and neurological disorders.
Gene Information Card
| Symbol | PAOX |
|---|---|
| Full Name | Polyamine Oxidase |
| Gene Type | protein-coding |
| Chromosomal Location | 10q26.3 |
| NCBI Gene ID | 196743 ncbi.nlm.nih.gov/gene/196743 |
| Ensembl ID | ENSG00000148848 |
| UniProt ID | Q9UMX3 |
| OMIM ID | 615867 |
| HGNC ID | 20837 |
| Aliases | PAO, MGC117188, MGC117189 |
Description
The PAOX gene encodes polyamine oxidase, a flavin adenine dinucleotide (FAD)-dependent enzyme that catalyzes the oxidative deamination of N1-acetylspermine and N1-acetylspermidine, converting them back to spermidine and putrescine, respectively. This enzyme plays a critical role in polyamine homeostasis by regulating intracellular polyamine levels through the back-conversion pathway. PAOX is expressed in various tissues and is implicated in cell proliferation, differentiation, and apoptosis. Dysregulation of PAOX has been associated with cancer, neurodegenerative diseases, and other disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered polyamine metabolism via PAOX upregulation or downregulation affects cell growth and apoptosis. | COSMIC, ClinVar |
| Alzheimer's disease | Increased PAOX activity may contribute to oxidative stress and neuronal damage. | NCBI Gene, OMIM |
| Parkinson's disease | Polyamine dysregulation involving PAOX linked to dopaminergic neuron vulnerability. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Brain | 6.1 | Low |
| Testis | 15.2 | High |
| Prostate | 9.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.8 | Hepatocellular carcinoma cell line |
| HEK293 | 7.2 | Embryonic kidney cells |
| SH-SY5Y | 5.9 | Neuroblastoma cell line |
| PC3 | 11.3 | Prostate cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.104C>T (p.Pro35Leu) | Missense | <0.01% | Unknown functional effect |
| c.457G>A (p.Glu153Lys) | Missense | <0.01% | Potential loss of function |
| c.832_833del (p.Leu278fs) | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to cause loss of enzyme activity.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative mutations have been described.
View complete mutation data：
Gene Ontology (GO)
| • catalytic activity (GO:0003824) | • polyamine catabolic process (GO:0006566) |
| • polyamine biosynthetic process (GO:0006596) | • oxidoreductase activity (GO:0016491) |
| • flavin adenine dinucleotide binding (GO:0050660) | • cytoplasm (GO:0005737) |
Pathways
• Polyamine metabolism (Reactome: R-HSA-351202)
• Spermine and spermidine degradation (KEGG: map00330)
Protein Summary
Polyamine oxidase (PAOX) is a 555-amino acid protein that localizes to the cytoplasm. It contains a FAD-binding domain and functions as a homodimer. The enzyme catalyzes the oxidation of N1-acetylspermine and N1-acetylspermidine, producing spermidine or putrescine, respectively, along with hydrogen peroxide and N-acetyl-3-aminopropanal. This activity is essential for maintaining polyamine balance and preventing toxic accumulation. PAOX is also involved in the production of reactive oxygen species, linking it to oxidative stress-related pathologies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PAOX Knockout HEK293 Cell Line | EDJ-KQ11568 | Human | 196743 | Details Get a Quote |
| PAOX Knockout HCT 116 Cell Line | EDJ-KQ38575 | Human | 196743 | Details Get a Quote |
| PAOX Knockout HeLa Cell Line | EDJ-KQ58977 | Human | 196743 | Details Get a Quote |
| PAOX Knockout A-549 Cell Line | EDJ-KQ67462 | Human | 196743 | Details Get a Quote |
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