Component
Human recessive GPT2 loss-of-function variants
Context-specific entity; species, compartment and exposure are stated on each 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
The human GPT2 p.Arg404* and p.Pro272Leu variants were biochemically loss-of-function in kindreds with developmental disability, postnatal microcephaly and frequent progressive motor symptoms.
Experimental context and source evidence
- availability_state
- machinery_impairment Imported condition classification; unverified.
- evidence_access
- Primary abstract
- experimental_model
- Human families plus biochemical variant assays; accompanying mouse metabolic experiments.
- limitations
- Clinical association and enzyme loss do not establish that low dietary alanine caused the phenotype or that supplementation treats it.
- nutrient_topic
- L-Alanine collection; species, compartment, exposure, co-substrates and manipulation remain explicit. · L-Alanine
- plain_language
- A genetic defect in alanine-related metabolism can affect brain growth and movement.
- primary_references
- Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features. · 2016 · https://pubmed.ncbi.nlm.nih.gov/27601654/ · DOI 10.1073/pnas.1609221113
- trigger_kind
- machinery_impairment Imported condition classification; unverified.
L-Alanine: carbon, nitrogen, protein synthesis and cross-nutrient mechanisms (2026-09-19) · lines 296–302
AI-assisted research curation; primary references, access levels and experimental limitations individually identified. Not publisher full text. · supports · Human families plus biochemical variant assays; accompanying mouse metabolic experiments. · source_derived_draft · unverified_draft
## alanine-human-gpt2-variants A genetic defect in alanine-related metabolism can affect brain growth and movement. The human GPT2 p.Arg404* and p.Pro272Leu variants were biochemically loss-of-function in kindreds with developmental disability, postnatal microcephaly and frequent progressive motor symptoms. Model: Human families plus biochemical variant assays; accompanying mouse metabolic experiments. Limitations: Clinical association and enzyme loss do not establish that low dietary alanine caused the phenotype or that supplementation treats it. Evidence access: Primary abstract Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features. · 2016 · https://pubmed.ncbi.nlm.nih.gov/27601654/ · DOI 10.1073/pnas.1609221113
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.