PDXP Gene - Pyridoxal Phosphatase
A key enzyme in vitamin B6 metabolism and cellular phosphate homeostasis
Gene Information Card
| Symbol | PDXP |
|---|---|
| Full Name | Pyridoxal Phosphatase |
| Gene Type | protein-coding |
| Chromosomal Location | 22q13.33 |
| NCBI Gene ID | 57026 ncbi.nlm.nih.gov/gene/57026 |
| Ensembl ID | ENSG00000100207 |
| UniProt ID | Q96GD0 |
| OMIM ID | 609246 |
| HGNC ID | 30217 |
| Aliases | PLP phosphatase, CIN, PLPP, PSPase |
Description
PDXP encodes pyridoxal phosphatase, an enzyme that dephosphorylates pyridoxal 5'-phosphate (PLP), the active form of vitamin B6, to pyridoxal. This reaction regulates intracellular PLP levels and influences neurotransmitter synthesis, homocysteine metabolism, and cellular phosphate balance. The gene is located on chromosome 22q13.33 and is expressed in multiple tissues, with highest levels in brain, kidney, and liver.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypophosphatasia | PDXP deficiency may contribute to altered PLP homeostasis, but direct causal link not established | ClinVar |
| Epileptic encephalopathy | Rare variants in PDXP associated with early-onset seizures and developmental delay | ClinVar |
| Peripheral neuropathy | Altered PLP metabolism linked to neuropathy; PDXP variants reported in some cases | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Liver | 8.9 | Medium |
| Heart | 5.3 | Low |
| Lung | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | High expression |
| SH-SY5Y | 11.8 | Neuronal model |
| HepG2 | 9.4 | Liver model |
| A549 | 6.2 | Lung model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | <0.01% | Reduced phosphatase activity |
| c.544G>A (p.Gly182Arg) | Missense | <0.01% | Impaired PLP binding |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Arg113Trp) reduce catalytic activity, leading to PLP accumulation and potential neurotoxicity.
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)
| • catalytic activity (GO:0003824) | • phosphatase activity (GO:0016791) |
| • identical protein binding (GO:0042802) | • cytoplasm (GO:0005737) |
| • cytosol (GO:0005829) | • metal ion binding (GO:0046872) |
Pathways
• Vitamin B6 metabolism (Reactome: R-HSA-196849)
• Pyridoxal phosphate homeostasis (Reactome: R-HSA-196836)
Protein Summary
Pyridoxal phosphatase (PDXP) is a 30 kDa cytoplasmic enzyme that hydrolyzes pyridoxal 5'-phosphate (PLP) to pyridoxal and inorganic phosphate. It belongs to the haloacid dehalogenase (HAD) superfamily and requires magnesium for activity. The enzyme is critical for maintaining PLP levels within a narrow physiological range, as excess PLP can interfere with neurotransmitter metabolism. PDXP is highly expressed in brain, kidney, and liver, and its dysregulation is implicated in neurological disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PDXP Knockout HEK293 Cell Line | EDJ-KQ11290 | Human | 57026 | Details Get a Quote |
| PDXP Knockout A-549 Cell Line | EDJ-KQ40667 | Human | 57026 | Details Get a Quote |
| PDXP Knockout HCT 116 Cell Line | EDJ-KQ40668 | Human | 57026 | Details Get a Quote |
| PDXP Knockout HeLa Cell Line | EDJ-KQ40669 | Human | 57026 | Details Get a Quote |
