Component
Human biallelic GIF disease genotypes in Tanner 2005
Human biallelic GIF disease genotypes in Tanner 2005
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
Biallelic GIF mutations in seven families with juvenile cobalamin deficiency identified inherited intrinsic-factor deficiency in cases initially suspected to have receptor-mediated IGS.
Experimental context and source evidence
- availability_state
- machinery_impairment Imported condition classification; unverified.
- cross_nutrient
- false
- experimental_model
- Human family linkage and sequencing study
- exposure
- Inherited GIF variants
- limitations
- Genetic classification; not evidence that all variants or all malabsorption have the same cause. Earlier absorption tests were inconclusive.
- nutrient_topic
- Vitamin B12 research collection; topical membership is not evidence of a direct dietary effect. · Vitamin B12 (cobalamins)
- organism
- Homo sapiens
- plain_language
- Some inherited absorption failures originate in intrinsic factor.
- primary_references
- [tanner-2005-gif] Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene. (2005). https://pubmed.ncbi.nlm.nih.gov/15738392/ DOI: 10.1073/pnas.0500517102
- tissue_or_cell_type
- Gastric intrinsic factor/intestinal absorption pathway
- trigger_kind
- machinery_impairment Imported condition classification; unverified.
Vitamin B12: mechanisms, deficiency and nutrient interactions (2026-09-17) · lines 309–320
AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text. · supports · Human family linkage and sequencing study · source_derived_draft · unverified_draft
### b12-abs-gif-genetic-malabsorption Biallelic GIF mutations in seven families with juvenile cobalamin deficiency identified inherited intrinsic-factor deficiency in cases initially suspected to have receptor-mediated IGS. Condition category: machinery_impairment nutrient_topic: Vitamin B12 research collection; topical membership is not evidence of a direct dietary effect. plain_language: Some inherited absorption failures originate in intrinsic factor. organism: Homo sapiens tissue_or_cell_type: Gastric intrinsic factor/intestinal absorption pathway experimental_model: Human family linkage and sequencing study limitations: Genetic classification; not evidence that all variants or all malabsorption have the same cause. Earlier absorption tests were inconclusive. exposure: Inherited GIF variants cross_nutrient: false [tanner-2005-gif] Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene. (2005). https://pubmed.ncbi.nlm.nih.gov/15738392/ DOI: 10.1073/pnas.0500517102
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.