PDXK: Pyridoxal Kinase – Vitamin B6 Metabolism and Neurological Disorders
Comprehensive gene card for PDXK, including genomic annotation, expression, mutations, and disease associations.
Gene Information Card
| Symbol | PDXK |
|---|---|
| Full Name | Pyridoxal Kinase |
| Gene Type | Protein coding |
| Chromosomal Location | 21q22.3 |
| NCBI Gene ID | 8566 ncbi.nlm.nih.gov/gene/8566 |
| Ensembl ID | ENSG00000160209 |
| UniProt ID | O00764 |
| OMIM ID | 179020 |
| HGNC ID | 8819 |
| Aliases | PK, PNK, C21orf124 |
Description
PDXK encodes pyridoxal kinase, which catalyzes the phosphorylation of pyridoxal, pyridoxine, and pyridoxamine to their active forms (pyridoxal 5'-phosphate, PLP). PLP is a cofactor for numerous enzymes involved in amino acid, neurotransmitter, and heme biosynthesis. Mutations in PDXK cause pyridoxal 5'-phosphate-dependent epilepsy and are associated with peripheral neuropathy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pyridoxal 5'-phosphate-dependent epilepsy | Loss-of-function mutations reduce PLP synthesis, impairing neurotransmitter metabolism and causing seizures. | ClinVar, OMIM |
| Peripheral neuropathy | Deficient PLP leads to impaired myelin synthesis and axonal degeneration. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Brain | 8.3 | Medium |
| Kidney | 10.1 | Medium |
| Heart | 7.2 | Low |
| Skeletal muscle | 5.6 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.2 | Hepatocellular carcinoma cell line |
| SH-SY5Y | 9.8 | Neuroblastoma cell line |
| HEK293 | 11.5 | Embryonic kidney cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34*) | Nonsense | Rare | Loss of function; associated with epilepsy |
| c.484G>A (p.Gly162Arg) | Missense | Rare | Reduced kinase activity; linked to neuropathy |
| c.677_678delAG | Frameshift | Rare | Premature truncation; loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated, non-functional protein, reducing PLP levels.
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)
| • GO:0008478 – pyridoxal kinase activity | • GO:0005524 – ATP binding |
| • GO:0042826 – pyridoxal phosphate biosynthetic process | • GO:0005737 – cytoplasm |
Pathways
• Vitamin B6 metabolism (Reactome: R-HSA-196849)
• Pyridoxal phosphate salvage pathway (KEGG: hsa00750)
Protein Summary
Pyridoxal kinase (UniProt O00764) is a 312-amino-acid cytosolic enzyme that phosphorylates vitamin B6 vitamers to generate pyridoxal 5'-phosphate (PLP). The enzyme requires ATP and zinc ions for activity. PLP is an essential cofactor for over 140 enzymes, including those involved in neurotransmitter synthesis (e.g., glutamate decarboxylase). PDXK deficiency leads to reduced PLP levels, causing metabolic and neurological dysfunction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PDXK Knockout HEK293 Cell Line | EDJ-KQ50798 | Human | 8566 | Details Get a Quote |
| PDXK Knockout HeLa Cell Line | EDC90238 | Human | 8566 | Details Get a Quote |
| PDXK Knockout A-549 Cell Line | EDJ-KQ63428 | Human | 8566 | Details Get a Quote |
| PDXK Knockout HCT 116 Cell Line | EDJ-KQ71894 | Human | 8566 | Details Get a Quote |
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