TKT Gene (Transketolase)
Key enzyme in the pentose phosphate pathway, linking glucose metabolism to nucleotide and NADPH synthesis
Gene Information Card
| Symbol | TKT |
|---|---|
| Full Name | Transketolase |
| Gene Type | Protein coding |
| Chromosomal Location | 3p14.3 |
| NCBI Gene ID | 7086 ncbi.nlm.nih.gov/gene/7086 |
| Ensembl ID | ENSG00000163946 |
| UniProt ID | P29401 |
| OMIM ID | 606781 |
| HGNC ID | 11834 |
| Aliases | TKT1, TK, TKT2 |
Description
The TKT gene encodes transketolase, a thiamine diphosphate-dependent enzyme that catalyzes key reactions in the non-oxidative branch of the pentose phosphate pathway. This enzyme transfers two-carbon ketol groups between sugar phosphates, linking glycolysis to nucleotide and NADPH synthesis. TKT is essential for cellular metabolism, particularly in rapidly dividing cells and tissues with high biosynthetic demands.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Transketolase deficiency | Impaired pentose phosphate pathway leading to metabolic disturbances | OMIM #606781; rare autosomal recessive disorder |
| Wernicke-Korsakoff syndrome | Reduced TKT activity due to thiamine deficiency; genetic variants may increase susceptibility | ClinVar; multiple studies |
| Cancer (various types) | Altered TKT expression supports tumor growth via nucleotide and NADPH production | COSMIC; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 9.8 | Medium |
| Heart | 7.5 | Medium |
| Brain | 6.2 | Low |
| Skeletal muscle | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.5 | High expression |
| HEK293 | 11.2 | Moderate expression |
| K562 | 8.9 | Moderate expression |
| A549 | 7.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.119G>A (p.Arg40His) | Missense | <0.01% | Reduced enzyme activity; associated with transketolase deficiency |
| c.494C>T (p.Thr165Met) | Missense | <0.01% | Impaired thiamine binding; reported in Wernicke-Korsakoff |
| c.1010A>G (p.Asn337Ser) | Missense | <0.01% | Decreased catalytic efficiency |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg40His, p.Thr165Met) reduce or abolish transketolase activity, leading to metabolic imbalance.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in TKT.
Dominant Negative (DN)
No evidence of dominant-negative effects; TKT deficiency is typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • transketolase activity (GO:0004802) | • pentose-phosphate shunt (GO:0006098) |
| • NADPH regeneration (GO:0006740) | • cytosol (GO:0005829) |
| • cytoplasm (GO:0005737) |
Pathways
• Pentose phosphate pathway (non-oxidative branch)
• Metabolic pathways
• Thiamine metabolism
Protein Summary
Transketolase (UniProt P29401) is a homodimeric enzyme of 623 amino acids, requiring thiamine diphosphate (ThDP) and divalent cations for activity. It catalyzes the reversible transfer of a two-carbon ketol group from xylulose-5-phosphate to ribose-5-phosphate, generating sedoheptulose-7-phosphate and glyceraldehyde-3-phosphate. The enzyme is central to cellular redox balance and biosynthesis of nucleotides and aromatic amino acids.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TKTL1 Knockout HEK293 Cell Line | EDJ-KQ6188 | Human | 8277 | Details Get a Quote |
| TKTL2 Knockout HEK293 Cell Line | EDJ-KQ9160 | Human | 84076 | Details Get a Quote |
| TKTL1 Knockout HeLa Cell Line | EDJ-KQ54842 | Human | 8277 | Details Get a Quote |
| TKTL2 Knockout HeLa Cell Line | EDJ-KQ57530 | Human | 84076 | Details Get a Quote |
| TKTL1 Knockout A-549 Cell Line | EDJ-KQ63333 | Human | 8277 | Details Get a Quote |
| TKTL2 Knockout A-549 Cell Line | EDJ-KQ66028 | Human | 84076 | Details Get a Quote |
| TKTL1 Knockout HCT 116 Cell Line | EDJ-KQ71803 | Human | 8277 | Details Get a Quote |
| TKTL2 Knockout HCT 116 Cell Line | EDJ-KQ74452 | Human | 84076 | Details Get a Quote |
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