Catalyzes the transfer of a two-carbon ketol group from a ketose donor to an aldose acceptor, via a covalent intermediate with the cofactor thiamine pyrophosphate
Homodimer
An autosomal recessive syndrome characterized by short stature, developmental delay, intellectual disability and congenital heart defects including ventricular septal defect, atrial septal defect and patent foramen ovale. Cataract and uveitis are observed in some patients.
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Genes with an experimentally identified or computationally predicted synthetic-lethal relationship to TKTL1, aggregated across our SSL data sources. Click any partner node to view that gene’s page.
Nodes and edges are coloured by the SSL data source. Partners appearing in more than one source are shown in grey.
Total Trials Found: 5
| NCT ID | Condition | Brief Title | Phase | Status |
|---|---|---|---|---|
| NCT03466528 | Alcohol Withdrawal, Lactic Acidosis, Vitamin B1 Deficiency, Magnesium Deficiency, Wernicke Encephalopathy | Alcohol: Thiamine and or Magnesium 1 | PHASE2, PHASE3 | COMPLETED |
| NCT03724136 | Alzheimer Disease, Alzheimer Dementia, Vascular Dementia, Lewy Body Disease, Lewy Body Dementia With Behavioral Disturbance (Disorder), Dementia, Mixed, Parkinson-Dementia Syndrome, Chronic Traumatic Encephalopathy, Huntington's Dementia, Wernicke Korsakoff Syndrome, Traumatic Brain Injury, Dementia, Multi-Infarct, Autism, Autism Spectrum Disorder, Autistic Behavior, Autistic Disorder, Current or Active State, Cadasil, LATE Limbic-predominant Age-related TDP-43 Encephalopathy | Alzheimer's Autism and Cognitive Impairment Stem Cell Treatment Study | NA | UNKNOWN |
| NCT03554668 | Inflammation, Magnesium Deficiency, Iron-deficiency, Thiamine Deficiency | Systemic Inflammatory Response: Thiamine and Magnesium Status (Sir TaM Study) | N/A | COMPLETED |
| NCT07450833 | Healthy Volunteers | Safety, Tolerability and Pharmacokinetics of Benfo-Oxythiamine (B-OT) in Healthy Volunteers | PHASE1 | COMPLETED |
| NCT02788552 | Wernicke-Korsakoff Syndrome | Optimum Thiamine Intervention (OpTIn) Trial | PHASE4 | COMPLETED |