TKTL1
Chr Xtransketolase like 1
Also known as: TKR, TKT2
The protein is a transketolase enzyme that catalyzes the transfer of two-carbon ketol groups between sugar phosphates, linking the pentose phosphate pathway with glycolysis through conversion of sedoheptulose 7-phosphate and glyceraldehyde 3-phosphate to ribose 5-phosphate and xylulose 5-phosphate. Mutations may cause Wernicke-Korsakoff syndrome, though the inheritance pattern is not established from the available data. The extremely high pLI score (0.999) and low LOEUF score (0.142) indicate this gene is highly intolerant to loss-of-function variants, suggesting haploinsufficiency as a likely pathogenic mechanism.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TKTL1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools