rs377204314

This variant is located in the TKTL1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About TKTL1

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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