Component

Human PDXK Ala228Thr

Disease-associated A228T PDXK protein.

1 recorded relationships. Experimental role, claim status and evidence remain attached to each record.

How nutrients influence it

Every nutrient with a recorded effect on this component, credited to the nutrient that acted rather than the chapter that recorded it. Open a nutrient to see the findings and the conditions they were measured under.

How nutrients reach it in more than one step

Chains of two or more recorded steps that end here, grouped by the nutrient they start from. Each step is a separate finding, so a chain is a route a mechanism could take, not proof that it does.

Tracing routes…

What it does

Every recorded relationship this component is part of, grouped by its role. Plain wording comes first; the technical statement follows.

Recorded relationships

What it acts on

  1. ATPgammaS binding was detected for wild-type PDXK but not A228T under the ITC conditions; A228T also required higher MgATP for half-maximal activity.

    Human PDXK Ala228Thr → ATP gamma S source_derived_draftungraded
    Experimental context and source evidence
    availability_state
    machinery_impairment Imported condition classification; unverified.
    evidence_location
    Figure 3B,E
    experimental_model
    Human families, dried blood spots, recombinant PDXK variants.
    exposure
    ATPgammaS ITC; variable MgATP kinetics.
    limitations
    ATPgammaS is an analog; absence of detectable binding is assay-specific.
    nutrient_topic
    Vitamin B6 research collection; topical membership is not evidence of a direct dietary effect. · Vitamin B6
    organism
    Homo sapiens
    plain_language
    The variant disrupts nucleotide handling.
    primary_references
    [chelban2019] PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation. (2019). https://pubmed.ncbi.nlm.nih.gov/31187503/ DOI: 10.1002/ana.25524
    tissue_or_cell_type
    Purified human enzyme
    trigger_kind
    machinery_impairment Imported condition classification; unverified.

    Vitamin B6: mechanisms, deficiency and nutrient interactions (2026-09-17) · lines 217–228

    AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text. · supports · Human families, dried blood spots, recombinant PDXK variants. · source_derived_draft · unverified_draft

    ### b6-transport-pdxk-a228t-atp ATPgammaS binding was detected for wild-type PDXK but not A228T under the ITC conditions; A228T also required higher MgATP for half-maximal activity. Condition category: machinery_impairment nutrient_topic: Vitamin B6 research collection; topical membership is not evidence of a direct dietary effect. plain_language: The variant disrupts nucleotide handling. organism: Homo sapiens tissue_or_cell_type: Purified human enzyme experimental_model: Human families, dried blood spots, recombinant PDXK variants. limitations: ATPgammaS is an analog; absence of detectable binding is assay-specific. exposure: ATPgammaS ITC; variable MgATP kinetics. evidence_location: Figure 3B,E [chelban2019] PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation. (2019). https://pubmed.ncbi.nlm.nih.gov/31187503/ DOI: 10.1002/ana.25524
    Complete structured claim and evidence

In the sources

Preserved passages that mention this component, quoted exactly. Open one to read it in context.

    This is a research prototype built from draft material. It is not medical advice, and its statements still await verification against the original studies.

    Evidence, AI assistance and curation standards