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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TKT
transketolase
Chromosome 3 Β· 3p21.1
NCBI Gene: 7086Ensembl: ENSG00000163931.18HGNC: HGNC:11834UniProt: P29401
219PubMed Papers
21Diseases
0Drugs
5Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
magnesium ion bindingtransketolase activitycalcium ion bindingprotein bindingtransketolase deficiencyneurodegenerative diseasecardiomyopathydiverticular disease
✦AI Summary

TKT (transketolase) is a key metabolic enzyme that catalyzes the transfer of two-carbon ketol groups in the pentose phosphate pathway (PPP), specifically in the non-oxidative branch, using thiamine pyrophosphate as a cofactor 1. The enzyme plays critical roles in immune regulation, particularly in regulatory T cell (Treg) function, where TKT deletion causes fatal autoimmune disease by impairing Treg suppressive capability through metabolic disruption and DNA hypermethylation 1. In cancer contexts, TKT exhibits complex roles: it promotes metabolic dysfunction-associated fatty liver disease (MAFLD) by limiting inosine-induced mitochondrial activity when hyperinsulinemia increases TKT expression 2, and contributes to chemoresistance in urothelial cancer through metabolic reprogramming that enhances pyrimidine biosynthesis 3. TKT is also involved in hepatocellular carcinoma (HCC) pathogenesis, where it can be regulated by crotonylation to suppress tumor progression 4 and serves as a potential prognostic biomarker when overexpressed in both blood and tumor tissues 5. The enzyme's dysfunction is associated with autoimmune disorders, where TKT levels are frequently downregulated in Treg cells of affected individuals 1, highlighting its clinical significance in both metabolic diseases and immune regulation.

Sources cited
1
TKT is essential for Treg function and its deletion causes fatal autoimmune disease through metabolic and epigenetic disruption
PMID: 35606596
2
TKT promotes MAFLD by limiting inosine-induced mitochondrial activity when induced by hyperinsulinemia
PMID: 38547864
3
TKT contributes to chemoresistance in urothelial cancer through metabolic reprogramming
PMID: 36637036
4
TKT can be regulated by crotonylation to suppress hepatocellular carcinoma progression
PMID: 38825017
5
TKT serves as a potential prognostic biomarker in hepatocellular carcinoma
PMID: 35856557
Disease Associationsβ“˜21
transketolase deficiencyOpen Targets
0.68Moderate
neurodegenerative diseaseOpen Targets
0.41Moderate
cardiomyopathyOpen Targets
0.41Moderate
diverticular diseaseOpen Targets
0.29Weak
Alzheimer diseaseOpen Targets
0.25Weak
Parkinson diseaseOpen Targets
0.25Weak
multiple sclerosisOpen Targets
0.24Weak
lysosomal storage diseaseOpen Targets
0.24Weak
hepatocellular carcinomaOpen Targets
0.12Weak
neoplasmOpen Targets
0.12Weak
urinary bladder carcinomaOpen Targets
0.10Suggestive
gliomaOpen Targets
0.09Suggestive
infectionOpen Targets
0.09Suggestive
renal cell carcinomaOpen Targets
0.09Suggestive
ovarian cancerOpen Targets
0.09Suggestive
Blackfan-Diamond anemiaOpen Targets
0.09Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
acute myeloid leukemiaOpen Targets
0.08Suggestive
strokeOpen Targets
0.08Suggestive
cancerOpen Targets
0.08Suggestive
Short stature, developmental delay, and congenital heart defectsUniProt
Pathogenic Variants5
NM_001135055.2:c.769_770insCTACCTCCTTATCTTCTGPathogenic
not provided|Transketolase deficiency
β˜…β˜…β˜†β˜†2026
NM_001064.4(TKT):c.1697-1G>ALikely pathogenic
Transketolase deficiency
β˜…β˜†β˜†β˜†2025
NM_001064.4(TKT):c.181C>T (p.Gln61Ter)Likely pathogenic
Transketolase deficiency
β˜…β˜†β˜†β˜†2024β†’ Residue 61
NM_001064.4(TKT):c.952C>T (p.Arg318Cys)Pathogenic
Transketolase deficiency
β˜†β˜†β˜†β˜†2016β†’ Residue 318
NM_001064.4(TKT):c.633G>A (p.Trp211Ter)Pathogenic
Transketolase deficiency
β˜†β˜†β˜†β˜†2016β†’ Residue 211
View on ClinVar β†—
Related Genes
TPI1Protein interaction100%TPK1Protein interaction98%ENO1Protein interaction98%ENO2Protein interaction98%LDHAProtein interaction98%PFKLProtein interaction98%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
29%
Ovary
16%
Liver
11%
Brain
10%
Heart
4%
Gene Interaction Network
Click a node to explore
TKTTPI1TPK1ENO1ENO2LDHAPFKL
PROTEIN STRUCTURE
Preparing viewer…
PDB4KXV Β· 0.97 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.92LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.72 [0.57–0.92]
RankingsWhere TKT stands among ~20K protein-coding genes
  • #1,890of 20,598
    Most Researched219 Β· top 10%
  • #3,480of 5,498
    Most Pathogenic Variants5
  • #8,479of 17,882
    Most Constrained (LOEUF)0.92
Genes detectedTKT
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Metabolic dysregulation and emerging therapeutical targets for hepatocellular carcinoma.
PMID: 35256934
Acta Pharm Sin B Β· 2022
1.00
2
Transketolase promotes MAFLD by limiting inosine-induced mitochondrial activity.
PMID: 38547864
Cell Metab Β· 2024
0.90
3
Glutaryl-CoA dehydrogenase suppresses tumor progression and shapes an anti-tumor microenvironment in hepatocellular carcinoma.
PMID: 38825017
J Hepatol Β· 2024
0.80
4
IDH2 stabilizes HIF-1Ξ±-induced metabolic reprogramming and promotes chemoresistance in urothelial cancer.
PMID: 36637036
EMBO J Β· 2023
0.70
5
Elevated FBXL6 expression in hepatocytes activates VRK2-transketolase-ROS-mTOR-mediated immune evasion and liver cancer metastasis in mice.
PMID: 37653031
Exp Mol Med Β· 2023
0.64