Component

Human taurine transporter / SLC6A6

Context-specific entity; species, compartment and exposure are stated on each claim.

9 recorded relationships. Experimental role, claim status and evidence remain attached to each record.

Read recorded mechanisms Open recursive mind map

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. TAUT inhibition combined with venetoclax synergistically reduced growth of primary human AML cells in the reported experiments.

    Human taurine transporter / SLC6A6 → Patient-derived human AML cell growth in taurine experiments source_derived_draftungraded
    Experimental context and source evidence
    evidence_access
    Primary abstract
    experimental_model
    Ex-vivo human AML; venetoclax-resistance expression analyses.
    limitations
    Measured experimental combination effect, not a proven clinical interaction between taurine supplements and venetoclax.
    nutrient_topic
    Taurine collection; molecular form, preparation, species, exposure and manipulation remain explicit. · Taurine
    plain_language
    Blocking nutrient uptake affected response to an anticancer drug in patient-derived cells.
    primary_references
    Taurine from tumour niche drives glycolysis to promote leukaemogenesis. · 2025 · https://pubmed.ncbi.nlm.nih.gov/40369079/ · DOI 10.1038/s41586-025-09018-7

    Taurine: synthesis, transport, mitochondrial decoding and nutrient interactions (2026-09-19) · lines 561–567

    AI-assisted research curation; primary-abstract references and experimental limitations individually identified. Not publisher full text. · supports · Ex-vivo human AML; venetoclax-resistance expression analyses. · source_derived_draft · unverified_draft

    ## taurine-leukemia-venetoclax Blocking nutrient uptake affected response to an anticancer drug in patient-derived cells. TAUT inhibition combined with venetoclax synergistically reduced growth of primary human AML cells in the reported experiments. Model: Ex-vivo human AML; venetoclax-resistance expression analyses. Limitations: Measured experimental combination effect, not a proven clinical interaction between taurine supplements and venetoclax. Evidence access: Primary abstract Taurine from tumour niche drives glycolysis to promote leukaemogenesis. · 2025 · https://pubmed.ncbi.nlm.nih.gov/40369079/ · DOI 10.1038/s41586-025-09018-7
    Complete structured claim and evidence

  2. The homozygous SLC6A6 p.Ala78Glu variant was associated with approximately 95% lower taurine uptake in patient peripheral blood mononuclear cells despite membrane localization of the variant protein.

    Human taurine transporter / SLC6A6 → Human SLC6A6-mediated cellular taurine uptake source_derived_draftungraded
    Experimental context and source evidence
    availability_state
    machinery_impairment Imported condition classification; unverified.
    evidence_access
    Primary abstract
    experimental_model
    Two affected brothers; human genetic, cell and spectroscopy studies.
    limitations
    Variant-specific inherited disease, not a universal threshold for dietary taurine insufficiency.
    nutrient_topic
    Taurine collection; molecular form, preparation, species, exposure and manipulation remain explicit. · Taurine
    plain_language
    A transporter can reach the membrane yet function poorly.
    primary_references
    Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration. · 2019 · https://pubmed.ncbi.nlm.nih.gov/31345061/ · DOI 10.1096/fj.201900914RR
    trigger_kind
    machinery_impairment Imported condition classification; unverified.

    Taurine: synthesis, transport, mitochondrial decoding and nutrient interactions (2026-09-19) · lines 145–151

    AI-assisted research curation; primary-abstract references and experimental limitations individually identified. Not publisher full text. · supports · Two affected brothers; human genetic, cell and spectroscopy studies. · source_derived_draft · unverified_draft

    ## taurine-taut-a78e A transporter can reach the membrane yet function poorly. The homozygous SLC6A6 p.Ala78Glu variant was associated with approximately 95% lower taurine uptake in patient peripheral blood mononuclear cells despite membrane localization of the variant protein. Model: Two affected brothers; human genetic, cell and spectroscopy studies. Limitations: Variant-specific inherited disease, not a universal threshold for dietary taurine insufficiency. Evidence access: Primary abstract Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration. · 2019 · https://pubmed.ncbi.nlm.nih.gov/31345061/ · DOI 10.1096/fj.201900914RR
    Complete structured claim and evidence

  3. SLC6A6 p.Thr249Ile and p.Ala294Thr missense variants showed complete loss of taurine transport in HEK293 cells and patient fibroblasts in the four-family study of seven affected individuals.

    Human taurine transporter / SLC6A6 → Human SLC6A6-mediated cellular taurine uptake source_derived_draftungraded
    Experimental context and source evidence
    availability_state
    machinery_impairment Imported condition classification; unverified.
    evidence_access
    Primary abstract
    experimental_model
    Human multicenter genetic study; cellular transport experiments; final issue year 2026, online 2025.
    limitations
    Investigational supplementation was proposed, not proven effective by this study.
    nutrient_topic
    Taurine collection; molecular form, preparation, species, exposure and manipulation remain explicit. · Taurine
    plain_language
    Some disease variants had no measurable transport in the tested cells.
    primary_references
    Early-Onset Retinopathy in Patients With Variants in SLC6A6 Leading to Impaired Taurine Transport. · 2026 · https://pubmed.ncbi.nlm.nih.gov/41343195/ · DOI 10.1001/jamaophthalmol.2025.4875
    trigger_kind
    machinery_impairment Imported condition classification; unverified.

    Taurine: synthesis, transport, mitochondrial decoding and nutrient interactions (2026-09-19) · lines 177–183

    AI-assisted research curation; primary-abstract references and experimental limitations individually identified. Not publisher full text. · supports · Human multicenter genetic study; cellular transport experiments; final issue year 2026, online 2025. · source_derived_draft · unverified_draft

    ## taurine-taut-new-variants Some disease variants had no measurable transport in the tested cells. SLC6A6 p.Thr249Ile and p.Ala294Thr missense variants showed complete loss of taurine transport in HEK293 cells and patient fibroblasts in the four-family study of seven affected individuals. Model: Human multicenter genetic study; cellular transport experiments; final issue year 2026, online 2025. Limitations: Investigational supplementation was proposed, not proven effective by this study. Evidence access: Primary abstract Early-Onset Retinopathy in Patients With Variants in SLC6A6 Leading to Impaired Taurine Transport. · 2026 · https://pubmed.ncbi.nlm.nih.gov/41343195/ · DOI 10.1001/jamaophthalmol.2025.4875
    Complete structured claim and evidence

  4. The two brothers carrying homozygous SLC6A6 p.Ala78Glu had panretinal degeneration and markedly reduced taurine in plasma, muscle and brain.

    Human taurine transporter / SLC6A6 → Retinal degeneration in human SLC6A6 deficiency source_derived_draftungraded
    Experimental context and source evidence
    availability_state
    machinery_impairment Imported condition classification; unverified.
    evidence_access
    Primary abstract
    experimental_model
    Rare human family; retinal examinations and in-vivo spectroscopy.
    limitations
    Absence of extraocular clinical signs at that time does not mean every organ was unaffected.
    nutrient_topic
    Taurine collection; molecular form, preparation, species, exposure and manipulation remain explicit. · Taurine
    plain_language
    Transport failure affected taurine availability in multiple compartments.
    primary_references
    Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration. · 2019 · https://pubmed.ncbi.nlm.nih.gov/31345061/ · DOI 10.1096/fj.201900914RR
    trigger_kind
    machinery_impairment Imported condition classification; unverified.

    Taurine: synthesis, transport, mitochondrial decoding and nutrient interactions (2026-09-19) · lines 153–159

    AI-assisted research curation; primary-abstract references and experimental limitations individually identified. Not publisher full text. · supports · Rare human family; retinal examinations and in-vivo spectroscopy. · source_derived_draft · unverified_draft

    ## taurine-taut-retina Transport failure affected taurine availability in multiple compartments. The two brothers carrying homozygous SLC6A6 p.Ala78Glu had panretinal degeneration and markedly reduced taurine in plasma, muscle and brain. Model: Rare human family; retinal examinations and in-vivo spectroscopy. Limitations: Absence of extraocular clinical signs at that time does not mean every organ was unaffected. Evidence access: Primary abstract Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration. · 2019 · https://pubmed.ncbi.nlm.nih.gov/31345061/ · DOI 10.1096/fj.201900914RR
    Complete structured claim and evidence

  5. Human TauT structures and uptake assays characterized sodium- and chloride-dependent taurine transport and substrate recognition.

    Human taurine transporter / SLC6A6 → Taurine source_derived_draftungraded
    Experimental context and source evidence
    evidence_access
    Primary abstract
    experimental_model
    Human SLC6A6 cryo-EM structures plus biochemical transport assays.
    limitations
    Transport activity is distinct from oral absorption, blood concentration and tissue sufficiency.
    nutrient_topic
    Taurine collection; molecular form, preparation, species, exposure and manipulation remain explicit. · Taurine
    plain_language
    Cells need a transporter to accumulate taurine.
    primary_references
    Molecular basis of human taurine transporter uptake and inhibition. · 2025 · https://pubmed.ncbi.nlm.nih.gov/40789850/ · DOI 10.1038/s41467-025-62857-w
    transport_effect
    raises Uptake assays characterised sodium- and chloride-dependent taurine transport.
    transport_pool
    the expressing cell Uptake assays characterised sodium- and chloride-dependent taurine transport.

    Taurine: synthesis, transport, mitochondrial decoding and nutrient interactions (2026-09-19) · lines 105–111

    AI-assisted research curation; primary-abstract references and experimental limitations individually identified. Not publisher full text. · supports · Human SLC6A6 cryo-EM structures plus biochemical transport assays. · source_derived_draft · unverified_draft

    ## taurine-taut-uptake Cells need a transporter to accumulate taurine. Human TauT structures and uptake assays characterized sodium- and chloride-dependent taurine transport and substrate recognition. Model: Human SLC6A6 cryo-EM structures plus biochemical transport assays. Limitations: Transport activity is distinct from oral absorption, blood concentration and tissue sufficiency. Evidence access: Primary abstract Molecular basis of human taurine transporter uptake and inhibition. · 2025 · https://pubmed.ncbi.nlm.nih.gov/40789850/ · DOI 10.1038/s41467-025-62857-w
    Complete structured claim and evidence

What acts on it

  1. The human TauT study captured guanidinoacetate-bound transporter structures as part of its substrate-recognition analysis.

    Guanidinoacetate → Human taurine transporter / SLC6A6 source_derived_draftungraded
    Experimental context and source evidence
    evidence_access
    Primary abstract
    experimental_model
    Human SLC6A6 structural study.
    limitations
    Binding structures alone do not quantify net transport or competition in a living human.
    nutrient_topic
    Taurine collection; molecular form, preparation, species, exposure and manipulation remain explicit. · Taurine
    plain_language
    A creatine precursor also connects to this transporter.
    primary_references
    Molecular basis of human taurine transporter uptake and inhibition. · 2025 · https://pubmed.ncbi.nlm.nih.gov/40789850/ · DOI 10.1038/s41467-025-62857-w

    Taurine: synthesis, transport, mitochondrial decoding and nutrient interactions (2026-09-19) · lines 137–143

    AI-assisted research curation; primary-abstract references and experimental limitations individually identified. Not publisher full text. · supports · Human SLC6A6 structural study. · source_derived_draft · unverified_draft

    ## taurine-taut-guanidinoacetate A creatine precursor also connects to this transporter. The human TauT study captured guanidinoacetate-bound transporter structures as part of its substrate-recognition analysis. Model: Human SLC6A6 structural study. Limitations: Binding structures alone do not quantify net transport or competition in a living human. Evidence access: Primary abstract Molecular basis of human taurine transporter uptake and inhibition. · 2025 · https://pubmed.ncbi.nlm.nih.gov/40789850/ · DOI 10.1038/s41467-025-62857-w
    Complete structured claim and evidence

Where it participates (unsigned role)

  1. Human TauT structures captured beta-alanine and taurine as separately bound substrate analogues at the transporter binding site.

    Beta-alanine → Taurine source_derived_draftungraded
    Experimental context and source evidence
    evidence_access
    Primary abstract
    experimental_model
    Human SLC6A6 cryo-EM structures and biochemical analysis.
    limitations
    Shared binding does not prove taurine depletion at typical beta-alanine supplement exposure.
    nutrient_topic
    Taurine collection; molecular form, preparation, species, exposure and manipulation remain explicit. · Taurine
    plain_language
    Beta-alanine and taurine interact with the same molecular doorway.
    primary_references
    Molecular basis of human taurine transporter uptake and inhibition. · 2025 · https://pubmed.ncbi.nlm.nih.gov/40789850/ · DOI 10.1038/s41467-025-62857-w

    Taurine: synthesis, transport, mitochondrial decoding and nutrient interactions (2026-09-19) · lines 129–135

    AI-assisted research curation; primary-abstract references and experimental limitations individually identified. Not publisher full text. · supports · Human SLC6A6 cryo-EM structures and biochemical analysis. · source_derived_draft · unverified_draft

    ## taurine-taut-beta-alanine Beta-alanine and taurine interact with the same molecular doorway. Human TauT structures captured beta-alanine and taurine as separately bound substrate analogues at the transporter binding site. Model: Human SLC6A6 cryo-EM structures and biochemical analysis. Limitations: Shared binding does not prove taurine depletion at typical beta-alanine supplement exposure. Evidence access: Primary abstract Molecular basis of human taurine transporter uptake and inhibition. · 2025 · https://pubmed.ncbi.nlm.nih.gov/40789850/ · DOI 10.1038/s41467-025-62857-w
    Complete structured claim and evidence

  2. In two siblings with SLC6A6 p.Gly399Val and about 15% residual transport, supervised taurine treatment at 100 mg/kg/day normalized blood taurine and corrected cardiomyopathy after 24 months.

    Taurine → Cardiomyopathy in human SLC6A6 deficiency source_derived_draftungraded
    Experimental context and source evidence
    availability_state
    machinery_impairment Imported condition classification; unverified.
    evidence_access
    Primary abstract
    experimental_model
    Uncontrolled two-sibling longitudinal treatment report.
    limitations
    Not a dosing recommendation or evidence that all SLC6A6 variants respond; residual transport and timing matter.
    nutrient_topic
    Taurine collection; molecular form, preparation, species, exposure and manipulation remain explicit. · Taurine
    plain_language
    A partially working transporter permitted a clinical treatment response in this family.
    primary_references
    Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency. · 2020 · https://pubmed.ncbi.nlm.nih.gov/31903486/ · DOI 10.1093/hmg/ddz303
    trigger_kind
    machinery_impairment Imported condition classification; unverified.

    Taurine: synthesis, transport, mitochondrial decoding and nutrient interactions (2026-09-19) · lines 161–167

    AI-assisted research curation; primary-abstract references and experimental limitations individually identified. Not publisher full text. · supports · Uncontrolled two-sibling longitudinal treatment report. · source_derived_draft · unverified_draft

    ## taurine-taut-heart-treatment A partially working transporter permitted a clinical treatment response in this family. In two siblings with SLC6A6 p.Gly399Val and about 15% residual transport, supervised taurine treatment at 100 mg/kg/day normalized blood taurine and corrected cardiomyopathy after 24 months. Model: Uncontrolled two-sibling longitudinal treatment report. Limitations: Not a dosing recommendation or evidence that all SLC6A6 variants respond; residual transport and timing matter. Evidence access: Primary abstract Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency. · 2020 · https://pubmed.ncbi.nlm.nih.gov/31903486/ · DOI 10.1093/hmg/ddz303
    Complete structured claim and evidence

  3. In the younger, six-year-old sibling in the p.Gly399Val family, taurine treatment was associated with arrested retinal degeneration and clinically improved vision over follow-up.

    Taurine → Retinal degeneration in human SLC6A6 deficiency source_derived_draftungraded
    Experimental context and source evidence
    availability_state
    machinery_impairment Imported condition classification; unverified.
    evidence_access
    Primary abstract
    experimental_model
    Same two-sibling report; retinal response documented in the younger child.
    limitations
    Not proof that established retinal loss is generally reversible or that treatment works with complete transport loss.
    nutrient_topic
    Taurine collection; molecular form, preparation, species, exposure and manipulation remain explicit. · Taurine
    plain_language
    Early retinal disease stabilized in one treated child.
    primary_references
    Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency. · 2020 · https://pubmed.ncbi.nlm.nih.gov/31903486/ · DOI 10.1093/hmg/ddz303
    trigger_kind
    machinery_impairment Imported condition classification; unverified.

    Taurine: synthesis, transport, mitochondrial decoding and nutrient interactions (2026-09-19) · lines 169–175

    AI-assisted research curation; primary-abstract references and experimental limitations individually identified. Not publisher full text. · supports · Same two-sibling report; retinal response documented in the younger child. · source_derived_draft · unverified_draft

    ## taurine-taut-retinal-treatment Early retinal disease stabilized in one treated child. In the younger, six-year-old sibling in the p.Gly399Val family, taurine treatment was associated with arrested retinal degeneration and clinically improved vision over follow-up. Model: Same two-sibling report; retinal response documented in the younger child. Limitations: Not proof that established retinal loss is generally reversible or that treatment works with complete transport loss. Evidence access: Primary abstract Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency. · 2020 · https://pubmed.ncbi.nlm.nih.gov/31903486/ · DOI 10.1093/hmg/ddz303
    Complete structured claim and evidence

In the sources

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

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