PLPBP

Chr 8p11.23

pyridoxal phosphate binding protein

MANE:: ENST00000328195.8

OMIM: 604436 ↗NCBI: 11212 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

PLPBP · O94903

v62025-08-01

Predicted Aligned Error matrix for PLPBP — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

89.3/ 100

Confident

275 residues

Confidence breakdown

Very high(≥ 90)79%
Confident(70–90)7%
Low(50–70)4%
Very low(< 50)10%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

pyridoxine-dependent epilepsy
0.72
hereditary disease
0.41
mathematical ability
0.08
ovarian neoplasm
0.05
Liver abscess
0.04
smoking initiation
0.04
Abnormality of the skeletal system
0.04
Peptic ulcer
0.03
hyperinsulinemic hypoglycemia, familial, 4
0.03
dysuria
0.03

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Pyridoxal phosphate homeostasis protein

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