Gene: TKTL1

Alternate names for this Gene: TKR|TKT2

Gene Summary: 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.

Gene is located in Chromosome: X

Location in Chromosome : Xq28

Description of this Gene: transketolase like 1

Type of Gene: protein-coding

rs2239467 in TKTL1 gene and Bilirubin level result PMID 19419973 2009 Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia.

rs2239467 in TKTL1 gene and Bilirubin measurement PMID 19419973 2009 Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia.

rs17336718 in TKTL1 gene and Testicular Germ Cell Tumor PMID 28604732 2017 Meta-analysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumor.