Component
Human SLC25A3 isoform A Gly72Glu variant
Human SLC25A3 isoform A Gly72Glu variant. Species, exposure and limitations are retained in each linked 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.
What it acts on
Fibroblast mitochondrial ATP synthesis was preserved, correlating with use of the alternative exon-3B isoform.
Experimental context and source evidence
- availability_state
- machinery_impairment Imported condition classification; unverified.
- evidence_span
- {"source_cache": "artifacts/phosphorus-research/17273968.abstract.txt", "locator": "Primary indexed abstract; zero-based, end-exclusive Unicode character offsets", "file_sha256": "ff20a374b5c0a96a013cb9dd52c86c9dcc63d157e35e8aac58266dd26da9c0a2", "start_char": 0, "end_char": 805, "text_sha256": "ff20a374b5c0a96a013cb9dd52c86c9dcc63d157e35e8aac58266dd26da9c0a2"}
- experimental_model
- Human family genetics, mitochondrial functional assay and yeast complementation
- exposure
- Two siblings with homozygous SLC25A3 exon-3A c.215G>A, p.Gly72Glu
- limitations
- Isoform- and tissue-specific inherited transport defect; normal dietary phosphorus cannot be assumed to repair the carrier.
- nutrient_topic
- Phosphorus research collection; topical membership is not evidence of a direct dietary effect. · Phosphorus
- organism
- Human; yeast functional complementation
- plain_language
- A preserved result in fibroblasts did not rule out the muscle defect.
- primary_references
- [phosphorus-p17273968] Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation. (2007). https://pubmed.ncbi.nlm.nih.gov/17273968/ DOI: 10.1086/511788
- tissue_or_cell_type
- Muscle compared with fibroblasts
- trigger_kind
- machinery_impairment Imported condition classification; unverified.
Phosphorus: metabolism, signaling and nutrient connections (2026-09-17) · lines 555–566
AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text. · supports · Human family genetics, mitochondrial functional assay and yeast complementation · source_derived_draft · unverified_draft
### phosphorus-slc25a3-fibroblast Fibroblast mitochondrial ATP synthesis was preserved, correlating with use of the alternative exon-3B isoform. Condition category: machinery_impairment nutrient_topic: Phosphorus research collection; topical membership is not evidence of a direct dietary effect. plain_language: A preserved result in fibroblasts did not rule out the muscle defect. organism: Human; yeast functional complementation tissue_or_cell_type: Muscle compared with fibroblasts experimental_model: Human family genetics, mitochondrial functional assay and yeast complementation limitations: Isoform- and tissue-specific inherited transport defect; normal dietary phosphorus cannot be assumed to repair the carrier. exposure: Two siblings with homozygous SLC25A3 exon-3A c.215G>A, p.Gly72Glu evidence_span: {"source_cache": "artifacts/phosphorus-research/17273968.abstract.txt", "locator": "Primary indexed abstract; zero-based, end-exclusive Unicode character offsets", "file_sha256": "ff20a374b5c0a96a013cb9dd52c86c9dcc63d157e35e8aac58266dd26da9c0a2", "start_char": 0, "end_char": 805, "text_sha256": "ff20a374b5c0a96a013cb9dd52c86c9dcc63d157e35e8aac58266dd26da9c0a2"} [phosphorus-p17273968] Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation. (2007). https://pubmed.ncbi.nlm.nih.gov/17273968/ DOI: 10.1086/511788
Complete structured claim and evidenceIntact muscle mitochondria from the affected siblings showed deficient ATP synthesis.
Experimental context and source evidence
- availability_state
- machinery_impairment Imported condition classification; unverified.
- evidence_span
- {"source_cache": "artifacts/phosphorus-research/17273968.abstract.txt", "locator": "Primary indexed abstract; zero-based, end-exclusive Unicode character offsets", "file_sha256": "ff20a374b5c0a96a013cb9dd52c86c9dcc63d157e35e8aac58266dd26da9c0a2", "start_char": 0, "end_char": 805, "text_sha256": "ff20a374b5c0a96a013cb9dd52c86c9dcc63d157e35e8aac58266dd26da9c0a2"}
- experimental_model
- Human family genetics, mitochondrial functional assay and yeast complementation
- exposure
- Two siblings with homozygous SLC25A3 exon-3A c.215G>A, p.Gly72Glu
- limitations
- Isoform- and tissue-specific inherited transport defect; normal dietary phosphorus cannot be assumed to repair the carrier.
- nutrient_topic
- Phosphorus research collection; topical membership is not evidence of a direct dietary effect. · Phosphorus
- organism
- Human; yeast functional complementation
- plain_language
- The defect appeared in the tissue using the affected carrier isoform.
- primary_references
- [phosphorus-p17273968] Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation. (2007). https://pubmed.ncbi.nlm.nih.gov/17273968/ DOI: 10.1086/511788
- tissue_or_cell_type
- Muscle compared with fibroblasts
- trigger_kind
- machinery_impairment Imported condition classification; unverified.
Phosphorus: metabolism, signaling and nutrient connections (2026-09-17) · lines 542–553
AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text. · supports · Human family genetics, mitochondrial functional assay and yeast complementation · source_derived_draft · unverified_draft
### phosphorus-slc25a3-muscle Intact muscle mitochondria from the affected siblings showed deficient ATP synthesis. Condition category: machinery_impairment nutrient_topic: Phosphorus research collection; topical membership is not evidence of a direct dietary effect. plain_language: The defect appeared in the tissue using the affected carrier isoform. organism: Human; yeast functional complementation tissue_or_cell_type: Muscle compared with fibroblasts experimental_model: Human family genetics, mitochondrial functional assay and yeast complementation limitations: Isoform- and tissue-specific inherited transport defect; normal dietary phosphorus cannot be assumed to repair the carrier. exposure: Two siblings with homozygous SLC25A3 exon-3A c.215G>A, p.Gly72Glu evidence_span: {"source_cache": "artifacts/phosphorus-research/17273968.abstract.txt", "locator": "Primary indexed abstract; zero-based, end-exclusive Unicode character offsets", "file_sha256": "ff20a374b5c0a96a013cb9dd52c86c9dcc63d157e35e8aac58266dd26da9c0a2", "start_char": 0, "end_char": 805, "text_sha256": "ff20a374b5c0a96a013cb9dd52c86c9dcc63d157e35e8aac58266dd26da9c0a2"} [phosphorus-p17273968] Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation. (2007). https://pubmed.ncbi.nlm.nih.gov/17273968/ DOI: 10.1086/511788
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.