Component
Human PNPO IVS3-1G>A splice genotype
Historical splice-site designation from Mills 2005; c.364-1G>A in subsequent nomenclature.
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.
Other things that act on it
Enzymes, hormones, genes, and other components with a recorded effect. These are not nutrients, so they do not count toward the arrows above. Each finding names the chapter that recorded it.
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.
What it acts on
The human PNPO IVS3-1G>A splice-site construct had no detectable PNPO activity in the reported CHO expression assay.
Experimental context and source evidence
- availability_state
- machinery_impairment Imported condition classification; unverified.
- evidence_location
- Indexed abstract: CHO expression studies
- experimental_model
- Five affected patients and human PNPO constructs expressed in CHO cells.
- exposure
- Construct expression, not nutrient withdrawal.
- limitations
- Cannot generalize to every PNPO variant or vitamer treatment response.
- nutrient_topic
- Vitamin B6 research collection; topical membership is not evidence of a direct dietary effect. · Vitamin B6
- organism
- Homo sapiens protein expressed in Cricetulus griseus cells
- plain_language
- This variant prevented measured B6 activation.
- primary_references
- [mills2005] Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase. (2005). https://pubmed.ncbi.nlm.nih.gov/15772097/ DOI: 10.1093/hmg/ddi120
- tissue_or_cell_type
- CHO expression system
- trigger_kind
- machinery_impairment Imported condition classification; unverified.
Vitamin B6: mechanisms, deficiency and nutrient interactions (2026-09-17) · lines 361–372
AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text. · supports · Five affected patients and human PNPO constructs expressed in CHO cells. · source_derived_draft · unverified_draft
### b6-transport-pnpo-splice The human PNPO IVS3-1G>A splice-site construct had no detectable PNPO activity in the reported CHO expression assay. Condition category: machinery_impairment nutrient_topic: Vitamin B6 research collection; topical membership is not evidence of a direct dietary effect. plain_language: This variant prevented measured B6 activation. organism: Homo sapiens protein expressed in Cricetulus griseus cells tissue_or_cell_type: CHO expression system experimental_model: Five affected patients and human PNPO constructs expressed in CHO cells. limitations: Cannot generalize to every PNPO variant or vitamer treatment response. exposure: Construct expression, not nutrient withdrawal. evidence_location: Indexed abstract: CHO expression studies [mills2005] Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase. (2005). https://pubmed.ncbi.nlm.nih.gov/15772097/ DOI: 10.1093/hmg/ddi120
Complete structured claim and evidence
The events it takes part in
A mechanism often involves more than two components. These are the full events, with every participant and its role.
Situations it appears in
Low-supply and faulty-machinery situations recorded in the chapters where this component plays a part.
In the sources
Preserved passages that mention this component, quoted exactly. Open one to read it in context.
Open hypotheses
Proposed ideas that involve this component. They are labeled as hypotheses and do not change any recorded statement.
This is a research prototype built from draft material. It is not medical advice, and its statements still await verification against the original studies.