Component
Human SLC5A7 missense variants tested in the 2016 CMS study
Human SLC5A7 missense variants tested in the 2016 CMS study. Species, exposure and limitations are retained in each linked claim.
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
Tested SLC5A7 missense variants caused a near-complete loss of CHT transport activity in cell models.
Experimental context and source evidence
- availability_state
- machinery_impairment Imported condition classification; unverified.
- evidence_span
- {"source_cache": "artifacts/choline-research/27569547.abstract.txt", "locator": "Primary indexed abstract; zero-based, end-exclusive Unicode character offsets", "file_sha256": "8f8b3acd919795de1aa33ccb5a616ccaaffc27e619990562f1bb69add7836d3d", "start_char": 0, "end_char": 1723, "text_sha256": "8f8b3acd919795de1aa33ccb5a616ccaaffc27e619990562f1bb69add7836d3d"}
- experimental_model
- Six-family genetics, expression assays and NMJ examination
- exposure
- Eleven recessive SLC5A7 mutations; missense variants tested functionally
- limitations
- Rare inherited disease with variant-specific effects; not a dietary-deficiency diagnosis or evidence that supplements repair the transporter.
- nutrient_topic
- Choline research collection; topical membership is not evidence of a direct dietary effect. · Choline
- organism
- Human variants; cell expression systems
- plain_language
- A damaged transporter can interrupt acetylcholine supply upstream of the synthesis enzyme.
- primary_references
- [choline-p27569547] Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea. (2016). https://pubmed.ncbi.nlm.nih.gov/27569547/ DOI: 10.1016/j.ajhg.2016.06.033
- tissue_or_cell_type
- Neuromuscular junction and choline transport
- trigger_kind
- machinery_impairment Imported condition classification; unverified.
Choline: metabolism, signaling and nutrient connections (2026-09-17) · lines 347–358
AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text. · supports · Six-family genetics, expression assays and NMJ examination · source_derived_draft · unverified_draft
### choline-cht1-mutants Tested SLC5A7 missense variants caused a near-complete loss of CHT transport activity in cell models. Condition category: machinery_impairment nutrient_topic: Choline research collection; topical membership is not evidence of a direct dietary effect. plain_language: A damaged transporter can interrupt acetylcholine supply upstream of the synthesis enzyme. organism: Human variants; cell expression systems tissue_or_cell_type: Neuromuscular junction and choline transport experimental_model: Six-family genetics, expression assays and NMJ examination limitations: Rare inherited disease with variant-specific effects; not a dietary-deficiency diagnosis or evidence that supplements repair the transporter. exposure: Eleven recessive SLC5A7 mutations; missense variants tested functionally evidence_span: {"source_cache": "artifacts/choline-research/27569547.abstract.txt", "locator": "Primary indexed abstract; zero-based, end-exclusive Unicode character offsets", "file_sha256": "8f8b3acd919795de1aa33ccb5a616ccaaffc27e619990562f1bb69add7836d3d", "start_char": 0, "end_char": 1723, "text_sha256": "8f8b3acd919795de1aa33ccb5a616ccaaffc27e619990562f1bb69add7836d3d"} [choline-p27569547] Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea. (2016). https://pubmed.ncbi.nlm.nih.gov/27569547/ DOI: 10.1016/j.ajhg.2016.06.033
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.