Component
SLC52A2 L339P variant
Human RFVT2 p.Leu339Pro disease-associated variant.
2 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
SLC52A2 L339P variant decreased radiolabeled-riboflavin uptake compared with wild-type RFVT2 in transfected HEK293 cells.
Experimental context and source evidence
- availability_state
- machinery_impairment Imported condition classification; unverified.
- evidence_location
- Figure 2a
- experimental_model
- Transient transporter expression with radiotracer uptake
- exposure
- 10 nM [3H]riboflavin, 1 minute, pH 7.4, 37 C.
- limitations
- Single-variant expression does not reproduce all neural tissue effects.
- nutrient_topic
- Riboflavin research collection; topical membership is not evidence of a direct dietary effect. · Riboflavin (vitamin B2)
- organism
- Homo sapiens
- plain_language
- The disease-associated transporter variant imports less riboflavin.
- primary_references
- [transport-slc52a2-disease-2012] Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome (2012). https://pmc.ncbi.nlm.nih.gov/articles/PMC3470687/ DOI: 10.1007/s10545-012-9513-y
- tissue_or_cell_type
- HEK293 cells
- trigger_kind
- machinery_impairment Imported condition classification; unverified.
Riboflavin: mechanisms, deficiency and nutrient interactions (2026-09-17) · lines 438–449
AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text. · supports · Transient transporter expression with radiotracer uptake · source_derived_draft · unverified_draft
### transport-slc52a2-l339p-uptake SLC52A2 L339P variant decreased radiolabeled-riboflavin uptake compared with wild-type RFVT2 in transfected HEK293 cells. Condition category: machinery_impairment nutrient_topic: Riboflavin research collection; topical membership is not evidence of a direct dietary effect. plain_language: The disease-associated transporter variant imports less riboflavin. organism: Homo sapiens tissue_or_cell_type: HEK293 cells experimental_model: Transient transporter expression with radiotracer uptake limitations: Single-variant expression does not reproduce all neural tissue effects. exposure: 10 nM [3H]riboflavin, 1 minute, pH 7.4, 37 C. evidence_location: Figure 2a [transport-slc52a2-disease-2012] Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome (2012). https://pmc.ncbi.nlm.nih.gov/articles/PMC3470687/ DOI: 10.1007/s10545-012-9513-y
Complete structured claim and evidence
Where it participates (unsigned role)
The child with compound SLC52A2 L123P/L339P variants had normal measured plasma riboflavin, FMN and FAD despite a transport-associated neurologic disorder.
Experimental context and source evidence
- availability_state
- machinery_impairment Imported condition classification; unverified.
- evidence_location
- Table 3 and Methods/results
- experimental_model
- Single genetic case; plasma flavin assay
- exposure
- Pretreatment plasma measurements.
- limitations
- One case; normal plasma measurements are not direct measurements of neuronal flavin sufficiency.
- nutrient_topic
- Riboflavin research collection; topical membership is not evidence of a direct dietary effect. · Riboflavin (vitamin B2)
- organism
- Homo sapiens
- plain_language
- Normal plasma flavins did not exclude a cellular transport defect.
- primary_references
- [transport-slc52a2-disease-2012] Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome (2012). https://pmc.ncbi.nlm.nih.gov/articles/PMC3470687/ DOI: 10.1007/s10545-012-9513-y
- tissue_or_cell_type
- Plasma and clinical nervous-system phenotype
- trigger_kind
- machinery_impairment Imported condition classification; unverified.
Riboflavin: mechanisms, deficiency and nutrient interactions (2026-09-17) · lines 451–462
AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text. · supports · Single genetic case; plasma flavin assay · source_derived_draft · unverified_draft
### transport-slc52a2-normal-plasma The child with compound SLC52A2 L123P/L339P variants had normal measured plasma riboflavin, FMN and FAD despite a transport-associated neurologic disorder. Condition category: machinery_impairment nutrient_topic: Riboflavin research collection; topical membership is not evidence of a direct dietary effect. plain_language: Normal plasma flavins did not exclude a cellular transport defect. organism: Homo sapiens tissue_or_cell_type: Plasma and clinical nervous-system phenotype experimental_model: Single genetic case; plasma flavin assay limitations: One case; normal plasma measurements are not direct measurements of neuronal flavin sufficiency. exposure: Pretreatment plasma measurements. evidence_location: Table 3 and Methods/results [transport-slc52a2-disease-2012] Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome (2012). https://pmc.ncbi.nlm.nih.gov/articles/PMC3470687/ DOI: 10.1007/s10545-012-9513-y
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.