Previous symbols: C21orf97, C21orf124. Aliases: PNK, PKH, FLJ21324, PRED79, FLJ31940, MGC15873.
PDXK (pyridoxal kinase) is named by 1 disorder entry, Neuropathy Hereditary Motor And Sensory Type VIc With Optic Atrophy.
ai-gene-review gives PDXK's core molecular functions as pyridoxal kinase activity; ATP binding; and magnesium ion binding, acting in pyridoxal 5'-phosphate salvage. Pyridoxal kinase phosphorylates the dietary B6 vitamers, the step that lets cells regenerate PLP from vitamin B6.
The entry types PDXK as causative, with a germline variant origin, and places it on the node Biallelic PDXK Variants Impair Pyridoxal Kinase Catalysis. ClinGen has classified PDXK for 0 diseases.
The gene's KB node carries the molecular function, pyridoxal kinase activity, marked decreased, and that is the gene review's first core function. Because the node carries no process term, the two layers share 0 GO process terms by identifier; the entry's downstream PLP-depletion node uses the broader pyridoxal 5'-phosphate biosynthetic process, of which PLP salvage is a part.
Underlined values are claims re-computed from the knowledge base each time this page is built. The tables below are the source of truth.
ai-gene-review has this gene at status INITIALIZED; the description is shown only once the review is complete. Read the draft upstream.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Neuropathy Hereditary Motor And Sensory Type VIc With Optic Atrophy | causative germline partial loss of function |
mechanism: Biallelic PDXK Variants Impair Pyridoxal Kinase Catalysis
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.