Component

Human LMBD1 233YERL-to-AAAA

Experimental alanine substitution of residues 233–236 in the candidate AP-2 sorting motif.

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.

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.

Recorded relationships

What it acts on

  1. In transfected HEK293 cells, LMBD1 carrying 233YERL-to-AAAA mislocalized partly to the cell surface; coexpressed ABCD4 followed its distribution instead of normal lysosomal targeting.

    Experimental context and source evidence
    availability_state
    machinery_impairment Imported condition classification; unverified.
    cross_nutrient
    false
    evidence_location
    Results: Figures 1, 6, 7; Methods: cell lines and CRISPR
    experimental_model
    HEK293 experimental sorting-motif mutagenesis
    exposure
    Human LMBD1-GFP 233YERL/AAAA plus ABCD4-HA
    limitations
    Experimental four-residue substitution; microscopy does not establish direct vitamin transport.
    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 escort’s sorting sequence sent the transporter to the wrong location.
    primary_references
    [kawaguchi-2016-lmbd1-escort] Translocation of the ABC transporter ABCD4 from the endoplasmic reticulum to lysosomes requires the escort protein LMBD1 (2016). https://pubmed.ncbi.nlm.nih.gov/27456980/ DOI: 10.1038/srep30183
    tissue_or_cell_type
    Embryonic kidney-derived cell line
    trigger_kind
    machinery_impairment Imported condition classification; unverified.

    Vitamin B12: mechanisms, deficiency and nutrient interactions (2026-09-17) · lines 599–611

    AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text. · supports · HEK293 experimental sorting-motif mutagenesis · source_derived_draft · unverified_draft

    ### b12-lmbd1-sorting-mutant In transfected HEK293 cells, LMBD1 carrying 233YERL-to-AAAA mislocalized partly to the cell surface; coexpressed ABCD4 followed its distribution instead of normal lysosomal targeting. Condition category: machinery_impairment nutrient_topic: Vitamin B12 research collection; topical membership is not evidence of a direct dietary effect. plain_language: Changing the escort’s sorting sequence sent the transporter to the wrong location. organism: Homo sapiens tissue_or_cell_type: Embryonic kidney-derived cell line experimental_model: HEK293 experimental sorting-motif mutagenesis limitations: Experimental four-residue substitution; microscopy does not establish direct vitamin transport. exposure: Human LMBD1-GFP 233YERL/AAAA plus ABCD4-HA cross_nutrient: false evidence_location: Results: Figures 1, 6, 7; Methods: cell lines and CRISPR [kawaguchi-2016-lmbd1-escort] Translocation of the ABC transporter ABCD4 from the endoplasmic reticulum to lysosomes requires the escort protein LMBD1 (2016). https://pubmed.ncbi.nlm.nih.gov/27456980/ DOI: 10.1038/srep30183
    Complete structured claim and evidence

In the sources

Preserved passages that mention this component, quoted exactly. Open one to read it in context.

    This is a research prototype built from draft material. It is not medical advice, and its statements still await verification against the original studies.

    Evidence, AI assistance and curation standards