Component
SLC46A1 loss-of-function genotype in Qiu 2006 family
Inherited transporter defect studied in the original PCFT report.
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
A PCFT loss-of-function mutation in the studied family established a genetic cause of hereditary folate malabsorption.
Experimental context and source evidence
- availability_state
- machinery_impairment Imported condition classification; unverified.
- experimental_model
- Human transporter expression, electrophysiology and affected family
- exposure
- Inherited mutation
- limitations
- Rare familial disorder; not dietary withdrawal.
- nutrient_topic
- Folate and folic acid research collection; topical membership is not evidence of a direct dietary effect. · Folate (vitamin B9)
- organism
- Homo sapiens
- plain_language
- An inherited transport defect can reduce folate absorption.
- primary_references
- [qiu2006] Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption (2006). https://pubmed.ncbi.nlm.nih.gov/17129779/ DOI: 10.1016/j.cell.2006.09.041
- tissue_or_cell_type
- Intestinal absorption and family genetics
- trigger_kind
- machinery_impairment Imported condition classification; unverified.
Folate and folic acid: mechanisms, deficiency and nutrient interactions (2026-09-17) · lines 143–153
AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text. · supports · Human transporter expression, electrophysiology and affected family · source_derived_draft · unverified_draft
### folate-pcft-inherited-malabsorption A PCFT loss-of-function mutation in the studied family established a genetic cause of hereditary folate malabsorption. Condition category: machinery_impairment nutrient_topic: Folate and folic acid research collection; topical membership is not evidence of a direct dietary effect. plain_language: An inherited transport defect can reduce folate absorption. organism: Homo sapiens tissue_or_cell_type: Intestinal absorption and family genetics experimental_model: Human transporter expression, electrophysiology and affected family limitations: Rare familial disorder; not dietary withdrawal. exposure: Inherited mutation [qiu2006] Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption (2006). https://pubmed.ncbi.nlm.nih.gov/17129779/ DOI: 10.1016/j.cell.2006.09.041
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.