Component

Human GSS L188P, D219A, D219G, Y270C, Y270H and R283C variants

Human GSS L188P, D219A, D219G, Y270C, Y270H and R283C variants. Species, exposure and limitations are retained in each linked 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.

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. Six tested GSS variants reduced Vmax to 2–27% of wild-type activity.

    Experimental context and source evidence
    availability_state
    machinery_impairment Imported condition classification; unverified.
    evidence_span
    {"source_cache": "artifacts/glutathione-research/15056072.abstract.txt", "locator": "Primary indexed abstract; zero-based, end-exclusive Unicode character offsets", "file_sha256": "eba1361a80a1f5021b9ca1c841eb5a6f8cc0e79302f68d30a09273debe3f6ee1", "start_char": 0, "end_char": 1151, "text_sha256": "eba1361a80a1f5021b9ca1c841eb5a6f8cc0e79302f68d30a09273debe3f6ee1"}
    experimental_model
    Recombinant patient-associated variant kinetics
    exposure
    Seven missense variants versus wild type
    limitations
    Variants differ; P314L was kinetically neutral in this assay. Clinical severity cannot be read directly from Vmax.
    nutrient_topic
    Glutathione research collection; topical membership is not evidence of a direct dietary effect. · GSH
    organism
    Human GSS expressed in E. coli
    plain_language
    The last assembly step can be the bottleneck.
    primary_references
    [glutathione-p15056072] Human hereditary glutathione synthetase deficiency: kinetic properties of mutant enzymes. (2004). https://pubmed.ncbi.nlm.nih.gov/15056072/ DOI: 10.1042/bj20040114
    tissue_or_cell_type
    Purified enzymes
    trigger_kind
    machinery_impairment Imported condition classification; unverified.

    Glutathione: metabolism, signaling and nutrient connections (2026-09-17) · lines 411–422

    AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text. · supports · Recombinant patient-associated variant kinetics · source_derived_draft · unverified_draft

    ### glutathione-gss-variants Six tested GSS variants reduced Vmax to 2–27% of wild-type activity. Condition category: machinery_impairment nutrient_topic: Glutathione research collection; topical membership is not evidence of a direct dietary effect. plain_language: The last assembly step can be the bottleneck. organism: Human GSS expressed in E. coli tissue_or_cell_type: Purified enzymes experimental_model: Recombinant patient-associated variant kinetics limitations: Variants differ; P314L was kinetically neutral in this assay. Clinical severity cannot be read directly from Vmax. exposure: Seven missense variants versus wild type evidence_span: {"source_cache": "artifacts/glutathione-research/15056072.abstract.txt", "locator": "Primary indexed abstract; zero-based, end-exclusive Unicode character offsets", "file_sha256": "eba1361a80a1f5021b9ca1c841eb5a6f8cc0e79302f68d30a09273debe3f6ee1", "start_char": 0, "end_char": 1151, "text_sha256": "eba1361a80a1f5021b9ca1c841eb5a6f8cc0e79302f68d30a09273debe3f6ee1"} [glutathione-p15056072] Human hereditary glutathione synthetase deficiency: kinetic properties of mutant enzymes. (2004). https://pubmed.ncbi.nlm.nih.gov/15056072/ DOI: 10.1042/bj20040114
    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