Aliases for TKTL1 Gene
External Ids for TKTL1 Gene
Previous GeneCards Identifiers 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 Peroneal Nerve Paralysis. Among its related pathways are Pentose phosphate pathway and Carbon metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor and transketolase activity. An important paralog of this gene is TKTL2.
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.