Component
Heterogeneous nuclear ribonucleoprotein A1
RNA-binding splicing regulator implicated in variant-induced SLC52A1 exon skipping.
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.
Where it participates (unsigned role)
SLC52A1 c.1134+11G>A created a binding site for splice-inhibitory hnRNP A1 and promoted exon 4 skipping.
Experimental context and source evidence
- availability_state
- machinery_impairment Imported condition classification; unverified.
- evidence_location
- Abstract; variant splicing mechanism
- experimental_model
- Variant functional splicing studies accompanying a clinical case
- exposure
- Variant versus reference SLC52A1 splicing context.
- limitations
- Clinical severity may depend on maternal nutritional context; mechanism should not be generalized to all intronic variants.
- nutrient_topic
- Riboflavin research collection; topical membership is not evidence of a direct dietary effect. · Riboflavin (vitamin B2)
- organism
- Homo sapiens
- plain_language
- An intronic change can disrupt production of the riboflavin transporter.
- primary_references
- [transport-slc52a1-splicing-2017] An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. (2017). https://pubmed.ncbi.nlm.nih.gov/29122468/ DOI: 10.1016/j.ymgme.2017.10.014
- tissue_or_cell_type
- Human SLC52A1 transcript in functional assays
- trigger_kind
- machinery_impairment Imported condition classification; unverified.
Riboflavin: mechanisms, deficiency and nutrient interactions (2026-09-17) · lines 477–488
AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text. · supports · Variant functional splicing studies accompanying a clinical case · source_derived_draft · unverified_draft
### transport-slc52a1-splice-silencer SLC52A1 c.1134+11G>A created a binding site for splice-inhibitory hnRNP A1 and promoted exon 4 skipping. Condition category: machinery_impairment nutrient_topic: Riboflavin research collection; topical membership is not evidence of a direct dietary effect. plain_language: An intronic change can disrupt production of the riboflavin transporter. organism: Homo sapiens tissue_or_cell_type: Human SLC52A1 transcript in functional assays experimental_model: Variant functional splicing studies accompanying a clinical case limitations: Clinical severity may depend on maternal nutritional context; mechanism should not be generalized to all intronic variants. exposure: Variant versus reference SLC52A1 splicing context. evidence_location: Abstract; variant splicing mechanism [transport-slc52a1-splicing-2017] An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. (2017). https://pubmed.ncbi.nlm.nih.gov/29122468/ DOI: 10.1016/j.ymgme.2017.10.014
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.