Component
Human HLCS Thr610 deletion variant
Human HLCS Thr610 deletion variant. 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.
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
The human HLCS Thr610-deletion variant had a biotin Km approximately three times the wild-type value.
Experimental context and source evidence
- availability_state
- machinery_impairment Imported condition classification; unverified.
- evidence_span
- {"source_cache": "artifacts/biotin-research/10590022.abstract.txt", "locator": "Exact primary indexed abstract; zero-based, end-exclusive Unicode character offsets", "file_sha256": "bbdc1b8fa77a6935ced529e847093935cf4c8c9e056470e81aa3473968b980c5", "start_char": 0, "end_char": 1628, "text_sha256": "bbdc1b8fa77a6935ced529e847093935cf4c8c9e056470e81aa3473968b980c5"}
- experimental_model
- Kinetics of seven human HLCS variants, patient cells and clinical response comparison
- exposure
- Genetic variants and biotin supplementation
- limitations
- Biotin responsiveness varied with residual enzyme capacity. Genotype effects must not be equated with ordinary dietary biotin deficiency.
- nutrient_topic
- Biotin research collection; topical membership is not evidence of a direct dietary effect. · Biotin
- organism
- Homo sapiens
- plain_language
- Different HLCS variants impair biotin use by different amounts.
- primary_references
- [b7-p10590022] Relationship between kinetic properties of mutant enzyme and biochemical and clinical responsiveness to biotin in holocarboxylase synthetase deficiency. (1999). https://pubmed.ncbi.nlm.nih.gov/10590022/ DOI: 10.1203/00006450-199912000-00004
- tissue_or_cell_type
- Purified variants and cultured patient cells
- trigger_kind
- machinery_impairment Imported condition classification; unverified.
Biotin: carboxylases, recycling, deficiency and nutrient interactions (2026-09-17) · lines 507–518
AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text. · supports · Kinetics of seven human HLCS variants, patient cells and clinical response comparison · source_derived_draft · unverified_draft
### b7-hlcs-t610 The human HLCS Thr610-deletion variant had a biotin Km approximately three times the wild-type value. Condition category: machinery_impairment nutrient_topic: Biotin research collection; topical membership is not evidence of a direct dietary effect. plain_language: Different HLCS variants impair biotin use by different amounts. organism: Homo sapiens tissue_or_cell_type: Purified variants and cultured patient cells experimental_model: Kinetics of seven human HLCS variants, patient cells and clinical response comparison limitations: Biotin responsiveness varied with residual enzyme capacity. Genotype effects must not be equated with ordinary dietary biotin deficiency. exposure: Genetic variants and biotin supplementation evidence_span: {"source_cache": "artifacts/biotin-research/10590022.abstract.txt", "locator": "Exact primary indexed abstract; zero-based, end-exclusive Unicode character offsets", "file_sha256": "bbdc1b8fa77a6935ced529e847093935cf4c8c9e056470e81aa3473968b980c5", "start_char": 0, "end_char": 1628, "text_sha256": "bbdc1b8fa77a6935ced529e847093935cf4c8c9e056470e81aa3473968b980c5"} [b7-p10590022] Relationship between kinetic properties of mutant enzyme and biochemical and clinical responsiveness to biotin in holocarboxylase synthetase deficiency. (1999). https://pubmed.ncbi.nlm.nih.gov/10590022/ DOI: 10.1203/00006450-199912000-00004
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.