PDXK

Chr 21q22.3

pyridoxal kinase

Aliases:: PNK, PKH, FLJ21324, PRED79, FLJ31940
MANE:: ENST00000291565.9

OMIM: 179020 ↗NCBI: 8566 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

PDXK · O00764

v62025-08-01

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

Mean pLDDT

95.8/ 100

Very high

312 residues

Confidence breakdown

Very high(≥ 90)92%
Confident(70–90)7%
Low(50–70)0%
Very low(< 50)0%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Hereditary neuropathy or pain disorder
BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
Unknown
Undiagnosed metabolic disorders
Unknown

Disease associations (Open Targets)

neuropathy, hereditary motor and sensory, type VIc, with optic atrophy
0.58
neurodegenerative disease
0.43
autoimmune disorder of central nervous system
0.37
ovarian neoplasm
0.28
hypertensive disorder
0.11
essential hypertension
0.11
hepatocellular carcinoma
0.08
Miyoshi myopathy
0.07
colorectal carcinoma
0.05
neoplasm
0.05

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

Protein function (UniProt)

Pyridoxal kinase

Catalyzes the phosphorylation of the dietary vitamin B6 vitamers pyridoxal (PL), pyridoxine (PN) and pyridoxamine (PM) to form pyridoxal 5'-phosphate (PLP), pyridoxine 5'-phosphate (PNP) and pyridoxamine 5'-phosphate (PMP), respectively (Probable) (PubMed:10987144, PubMed:17766369, PubMed:19351586, PubMed:31187503, PubMed:9099727). PLP is the active form of vitamin B6, and acts as a cofactor for over 140 different enzymatic reactions