Aliases for TKTL1 Gene
External Ids for TKTL1 Gene
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]
GeneCards Summary for TKTL1 Gene
TKTL1 (Transketolase-Like 1) is a Protein Coding gene. Diseases associated with TKTL1 include wernicke-korsakoff syndrome and nasopharyngitis. Among its related pathways are Carbon metabolism and Metabolism. GO annotations related to this gene include transketolase activity. An important paralog of this gene is TKT.
UniProtKB/Swiss-Prot for TKTL1 Gene
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.