Component
Human hepatocyte nuclear factor 1 beta / HNF1B
Context-specific entity; species, compartment and exposure are stated on each claim.
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.
Where it participates (unsigned role)
Five of seven tested PCBD1 mutations caused proteolytic instability and reduced FXYD2 promoter activity.
Experimental context and source evidence
- availability_state
- machinery_impairment Imported condition classification; unverified.
- evidence_access
- Primary abstract
- experimental_model
- Human PCBD1 variant expression and promoter assays.
- limitations
- Variant effects are not uniform and do not establish dietary phenylalanine deficiency.
- nutrient_topic
- L-Phenylalanine collection; species, compartment, exposure, co-substrates and manipulation remain explicit. · L-Phenylalanine
- plain_language
- Some mutations damage the protein and weaken its kidney-related transcriptional function.
- primary_references
- Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting. · 2014 · https://pubmed.ncbi.nlm.nih.gov/24204001/ · DOI 10.1681/ASN.2013040337
- trigger_kind
- machinery_impairment Imported condition classification; unverified.
L-Phenylalanine: transport, protein synthesis, cofactor recycling and cross-nutrient mechanisms (2026-09-19) · lines 86–92
AI-assisted research curation; primary references, access levels and experimental limitations individually identified. Not publisher full text. · supports · Human PCBD1 variant expression and promoter assays. · source_derived_draft · unverified_draft
## l-phenylalanine-pcbd-mutants Some mutations damage the protein and weaken its kidney-related transcriptional function. Five of seven tested PCBD1 mutations caused proteolytic instability and reduced FXYD2 promoter activity. Model: Human PCBD1 variant expression and promoter assays. Limitations: Variant effects are not uniform and do not establish dietary phenylalanine deficiency. Evidence access: Primary abstract Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting. · 2014 · https://pubmed.ncbi.nlm.nih.gov/24204001/ · DOI 10.1681/ASN.2013040337
Complete structured claim and evidenceOverexpressed wild-type PCBD1 bound HNF1B and increased FXYD2 promoter activity in a human kidney cell line.
Experimental context and source evidence
- evidence_access
- Primary abstract
- experimental_model
- Human kidney-cell overexpression and promoter assay.
- limitations
- Promoter activity is not a direct measurement of magnesium flux or proof that phenylalanine intake regulates magnesium.
- nutrient_topic
- L-Phenylalanine collection; species, compartment, exposure, co-substrates and manipulation remain explicit. · L-Phenylalanine
- plain_language
- A protein used in phenylalanine metabolism also helps control a kidney transport regulator.
- primary_references
- Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting. · 2014 · https://pubmed.ncbi.nlm.nih.gov/24204001/ · DOI 10.1681/ASN.2013040337
L-Phenylalanine: transport, protein synthesis, cofactor recycling and cross-nutrient mechanisms (2026-09-19) · lines 78–84
AI-assisted research curation; primary references, access levels and experimental limitations individually identified. Not publisher full text. · supports · Human kidney-cell overexpression and promoter assay. · source_derived_draft · unverified_draft
## l-phenylalanine-pcbd-transcription A protein used in phenylalanine metabolism also helps control a kidney transport regulator. Overexpressed wild-type PCBD1 bound HNF1B and increased FXYD2 promoter activity in a human kidney cell line. Model: Human kidney-cell overexpression and promoter assay. Limitations: Promoter activity is not a direct measurement of magnesium flux or proof that phenylalanine intake regulates magnesium. Evidence access: Primary abstract Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting. · 2014 · https://pubmed.ncbi.nlm.nih.gov/24204001/ · DOI 10.1681/ASN.2013040337
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.