TKTL1

Chr X

transketolase like 1

Also known as: TKR, TKT2

NCBI Gene: 8277 ENSG00000007350 UniProt: P51854 OMIM: 300044

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.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a transketolase that acts as a homodimer and catalyzes the conversion of sedoheptulose 7-phosphate and D-glyceraldehyde 3-phosphate to D-ribose 5-phosphate and D-xylulose 5-phosphate. This reaction links the pentose phosphate pathway with the glycolytic pathway. Variations in this gene may be the cause of Wernicke-Korsakoff syndrome. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.14

LOEUF· LoF intol.

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Mechanism