PLPBP
Function
Pyridoxal 5'-phosphate (PLP)-binding protein, which may be involved in intracellular homeostatic regulation of pyridoxal 5'-phosphate (PLP), the active form of vitamin B6.
Involvement in disease
Epilepsy, early-onset, 1, vitamin B6-dependent
EPEO1
An autosomal recessive neurologic disorder characterized by seizures responsive to treatment with activated vitamin B6 and/or pyridoxine. Most patients show delayed psychomotor development, intellectual disability and learning disability. Seizures onset is in the first days or months of life.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the pyridoxal phosphate-binding protein YggS/PROSC family.
Tissue Specificity
Ubiquitous.
Alternative names
PROSC, PLPBP, Pyridoxal phosphate homeostasis protein, PLP homeostasis protein, Proline synthase co-transcribed bacterial homolog protein, Pyridoxal phosphate-binding protein