PLPBP (Pyridoxal Phosphate Binding Protein)
A key gene in vitamin B6 metabolism and neurological disorders
Gene Information Card
| Symbol | PLPBP |
|---|---|
| Full Name | Pyridoxal Phosphate Binding Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 8p11.23 |
| NCBI Gene ID | 11246 ncbi.nlm.nih.gov/gene/11246 |
| Ensembl ID | ENSG00000104408 |
| UniProt ID | O94903 |
| OMIM ID | 604436 |
| HGNC ID | 24520 |
| Aliases | PROSC, PLPBP, PROS, PROSC1 |
Description
The PLPBP gene encodes the pyridoxal phosphate binding protein, which is involved in vitamin B6 metabolism. It binds pyridoxal 5'-phosphate (PLP), the active form of vitamin B6, and is thought to regulate intracellular PLP homeostasis. Mutations in this gene cause pyridoxine-dependent epilepsy and other neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pyridoxine-dependent epilepsy | Loss of PLPBP function leads to reduced PLP availability, impairing neurotransmitter synthesis and causing seizures | ClinVar, OMIM |
| Early-onset epileptic encephalopathy | Disrupted PLP homeostasis affects GABA and dopamine metabolism, leading to severe seizures | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Low |
| Kidney | 7.1 | Low |
| Heart | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 10.1 | Neuronal cell line |
| HEK293 | 6.8 | Embryonic kidney cells |
| HepG2 | 5.5 | Liver cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.155C>T (p.Pro52Leu) | Missense | Rare | Reduced PLP binding affinity |
| c.322G>A (p.Gly108Arg) | Missense | Rare | Impaired protein stability |
Mutation functional classification
Loss of Function (LOF)
Most reported mutations lead to loss of PLP binding or protein instability, reducing PLP availability.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative effects documented.
View complete mutation data：
Gene Ontology (GO)
| • pyridoxal phosphate binding | • vitamin B6 binding |
| • cellular response to vitamin B6 | • intracellular vitamin B6 homeostasis |
Pathways
• Vitamin B6 metabolism
• Pyridoxal phosphate salvage pathway
Protein Summary
The PLPBP protein is a 33 kDa cytosolic protein that binds pyridoxal 5'-phosphate (PLP) with high affinity. It acts as a chaperone or reservoir for PLP, protecting it from degradation and regulating its availability for enzymatic reactions, particularly in neurotransmitter synthesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLPBP Knockout HEK293 Cell Line | EDJ-KQ7336 | Human | 11212 | Details Get a Quote |
| PLPBP Knockout A-549 Cell Line | EDJ-KQ32426 | Human | 11212 | Details Get a Quote |
| PLPBP Knockout HCT 116 Cell Line | EDJ-KQ32427 | Human | 11212 | Details Get a Quote |
| PLPBP Knockout HeLa Cell Line | EDJ-KQ32428 | Human | 11212 | Details Get a Quote |
