Component
SLC52A2 W31S variant
Human RFVT2 p.Trp31Ser disease-associated variant.
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
RFVT2 W31S abolished measurable uptake despite detectable membrane expression in the study, separating transport failure from simple protein absence.
Experimental context and source evidence
- availability_state
- machinery_impairment Imported condition classification; unverified.
- evidence_location
- Figure 5A-B
- experimental_model
- HEK293 transient expression, tracer uptake and membrane immunoblot
- exposure
- W31S expression compared with wild type.
- limitations
- Crude-membrane detection does not quantify correctly oriented surface protein.
- nutrient_topic
- Riboflavin research collection; topical membership is not evidence of a direct dietary effect. · Riboflavin (vitamin B2)
- organism
- Homo sapiens
- plain_language
- A transporter can reach the membrane yet fail to carry riboflavin.
- primary_references
- [transport-slc52a2-neuronopathy-2014] Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2 (2014). https://pmc.ncbi.nlm.nih.gov/articles/PMC3891447/ DOI: 10.1093/brain/awt315
- tissue_or_cell_type
- HEK293 cells
- trigger_kind
- machinery_impairment Imported condition classification; unverified.
Riboflavin: mechanisms, deficiency and nutrient interactions (2026-09-17) · lines 464–475
AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text. · supports · HEK293 transient expression, tracer uptake and membrane immunoblot · source_derived_draft · unverified_draft
### transport-slc52a2-w31s-intrinsic-defect RFVT2 W31S abolished measurable uptake despite detectable membrane expression in the study, separating transport failure from simple protein absence. Condition category: machinery_impairment nutrient_topic: Riboflavin research collection; topical membership is not evidence of a direct dietary effect. plain_language: A transporter can reach the membrane yet fail to carry riboflavin. organism: Homo sapiens tissue_or_cell_type: HEK293 cells experimental_model: HEK293 transient expression, tracer uptake and membrane immunoblot limitations: Crude-membrane detection does not quantify correctly oriented surface protein. exposure: W31S expression compared with wild type. evidence_location: Figure 5A-B [transport-slc52a2-neuronopathy-2014] Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2 (2014). https://pmc.ncbi.nlm.nih.gov/articles/PMC3891447/ DOI: 10.1093/brain/awt315
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.