Component
Human ABCD4 Y482A
Experimental Tyr482Ala protein substitution, not asserted to be a patient allele.
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
Human ABCD4 Y482A showed markedly impaired association with LMBD1 in HEK293T co-immunoprecipitation compared with wild-type ABCD4.
Experimental context and source evidence
- availability_state
- machinery_impairment Imported condition classification; unverified.
- cross_nutrient
- false
- evidence_location
- Figure 4c
- experimental_model
- HEK293T human tagged-protein interface mutagenesis
- exposure
- ABCD4-HA Y482A plus LMBD1-GFP-Flag versus wild type
- limitations
- Experimental Y482A substitution and overexpression; no claim that this is a disease allele or a direct flux measurement.
- nutrient_topic
- Vitamin B12 research collection; topical membership is not evidence of a direct dietary effect. · Vitamin B12 (cobalamins)
- organism
- Homo sapiens
- plain_language
- Changing the transporter’s interface weakened its association with the escort.
- primary_references
- [liu-2026-abcd4-interface] Structural basis for LMBD1-dependent trafficking and cobalamin export of ABCD4 (2026). https://pubmed.ncbi.nlm.nih.gov/42303638/ DOI: 10.1038/s41467-026-74552-5
- tissue_or_cell_type
- Human embryonic kidney-derived cell line
- trigger_kind
- machinery_impairment Imported condition classification; unverified.
Vitamin B12: mechanisms, deficiency and nutrient interactions (2026-09-17) · lines 949–961
AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text. · supports · HEK293T human tagged-protein interface mutagenesis · source_derived_draft · unverified_draft
### b12-abcd4-y482a-binding Human ABCD4 Y482A showed markedly impaired association with LMBD1 in HEK293T co-immunoprecipitation compared with wild-type ABCD4. Condition category: machinery_impairment nutrient_topic: Vitamin B12 research collection; topical membership is not evidence of a direct dietary effect. plain_language: Changing the transporter’s interface weakened its association with the escort. organism: Homo sapiens tissue_or_cell_type: Human embryonic kidney-derived cell line experimental_model: HEK293T human tagged-protein interface mutagenesis limitations: Experimental Y482A substitution and overexpression; no claim that this is a disease allele or a direct flux measurement. exposure: ABCD4-HA Y482A plus LMBD1-GFP-Flag versus wild type cross_nutrient: false evidence_location: Figure 4c [liu-2026-abcd4-interface] Structural basis for LMBD1-dependent trafficking and cobalamin export of ABCD4 (2026). https://pubmed.ncbi.nlm.nih.gov/42303638/ DOI: 10.1038/s41467-026-74552-5
Complete structured claim and evidenceHuman ABCD4 Y482A coexpressed with LMBD1 in HEK293T cells showed a reticular distribution without normal LAMP1 overlap.
Experimental context and source evidence
- availability_state
- machinery_impairment Imported condition classification; unverified.
- cross_nutrient
- false
- evidence_location
- Supplementary Figure 12a,b
- experimental_model
- HEK293T human tagged-protein interface mutagenesis
- exposure
- ABCD4-HA Y482A plus LMBD1-GFP-Flag versus wild type
- limitations
- Experimental Y482A substitution and overexpression; no claim that this is a disease allele or a direct flux measurement.
- nutrient_topic
- Vitamin B12 research collection; topical membership is not evidence of a direct dietary effect. · Vitamin B12 (cobalamins)
- organism
- Homo sapiens
- plain_language
- The interface variant failed to reach lysosomes normally.
- primary_references
- [liu-2026-abcd4-interface] Structural basis for LMBD1-dependent trafficking and cobalamin export of ABCD4 (2026). https://pubmed.ncbi.nlm.nih.gov/42303638/ DOI: 10.1038/s41467-026-74552-5
- tissue_or_cell_type
- Human embryonic kidney-derived cell line
- trigger_kind
- machinery_impairment Imported condition classification; unverified.
Vitamin B12: mechanisms, deficiency and nutrient interactions (2026-09-17) · lines 963–975
AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text. · supports · HEK293T human tagged-protein interface mutagenesis · source_derived_draft · unverified_draft
### b12-abcd4-y482a-targeting Human ABCD4 Y482A coexpressed with LMBD1 in HEK293T cells showed a reticular distribution without normal LAMP1 overlap. Condition category: machinery_impairment nutrient_topic: Vitamin B12 research collection; topical membership is not evidence of a direct dietary effect. plain_language: The interface variant failed to reach lysosomes normally. organism: Homo sapiens tissue_or_cell_type: Human embryonic kidney-derived cell line experimental_model: HEK293T human tagged-protein interface mutagenesis limitations: Experimental Y482A substitution and overexpression; no claim that this is a disease allele or a direct flux measurement. exposure: ABCD4-HA Y482A plus LMBD1-GFP-Flag versus wild type cross_nutrient: false evidence_location: Supplementary Figure 12a,b [liu-2026-abcd4-interface] Structural basis for LMBD1-dependent trafficking and cobalamin export of ABCD4 (2026). https://pubmed.ncbi.nlm.nih.gov/42303638/ DOI: 10.1038/s41467-026-74552-5
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.