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GeneE
10 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.
KHK
ketohexokinase
Chromosome 2 Β· 2p23.3
NCBI Gene: 3795Ensembl: ENSG00000138030.14HGNC: HGNC:6315UniProt: A0A140VJM6
48PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Kinase
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
ketohexokinase activityprotein bindingATP bindingidentical protein bindingessential fructosuriaDisorder of carbohydrate metabolismrisk-taking behaviourmusculoskeletal system disease
✦AI Summary

Ketohexokinase (KHK) is the rate-limiting enzyme of fructose metabolism, catalyzing the phosphorylation of fructose to fructose-1-phosphate 1. This metabolic function is central to how dietary fructose is processed, particularly in the liver where KHK-C isoform is predominantly expressed 2. Mechanistically, KHK initiates fructolysis, which generates metabolic byproducts including lipid species such as lysophosphatidylcholines (LPCs) 2. When fructose is consumed excessively, KHK activity contributes to pathogenic pathways including de novo lipogenesis, impaired fatty acid oxidation, endoplasmic reticulum stress, and hepatic inflammation 1. Notably, fructose metabolism through KHK can directly impair hepatic insulin signaling by reducing insulin receptor expression and increasing protein-tyrosine phosphatase activity 1. KHK dysfunction has clinical relevance to metabolic disease. Knockdown of KHK increases hepatic insulin sensitivity 1, and pharmacological KHK inhibition decreases circulating lipid metabolites and prevents fructose-mediated tumor growth 2. The enzyme is also involved in cancer metabolism, where hepatocyte-derived LPCs produced via KHK-catalyzed fructose metabolism can enhance tumor growth through cell non-autonomous mechanisms 2. Elevated KHK expression occurs in certain cancers where it contributes to glycolytic reprogramming and immunosuppression 3.

Sources cited
1
KHK is the rate-limiting enzyme of fructose metabolism; its knockdown increases insulin sensitivity; fructose metabolism impairs hepatic insulin signaling and promotes lipogenesis
PMID: 31935149
2
KHK-C catalyzes fructolysis producing lipid species like LPCs; KHK inhibition prevents fructose-mediated tumor growth via reduced circulating lipids
PMID: 39633044
3
Fructose metabolism contributes to pathogenesis of cardiometabolic disease when consumed in excess
PMID: 34619074
4
KHK expression is induced in cervical cancer and contributes to glycolytic metabolism and immunosuppression
PMID: 37818745
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
essential fructosuriaOpen Targets
0.67Moderate
Disorder of carbohydrate metabolismOpen Targets
0.37Weak
risk-taking behaviourOpen Targets
0.34Weak
musculoskeletal system diseaseOpen Targets
0.24Weak
Limb painOpen Targets
0.16Weak
osteoarthritis, hipOpen Targets
0.14Weak
osteoarthritis, kneeOpen Targets
0.14Weak
smoking cessationOpen Targets
0.12Weak
anxiety disorderOpen Targets
0.09Suggestive
mathematical abilityOpen Targets
0.07Suggestive
non-alcoholic fatty liver diseaseOpen Targets
0.05Suggestive
attention deficit hyperactivity disorderOpen Targets
0.05Suggestive
Abdominal painOpen Targets
0.05Suggestive
HeadacheOpen Targets
0.05Suggestive
cornea transplantationOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.04Suggestive
Crohn's diseaseOpen Targets
0.04Suggestive
gliomaOpen Targets
0.03Suggestive
alcohol drinkingOpen Targets
0.03Suggestive
hepatocellular carcinomaOpen Targets
0.03Suggestive
FructosuriaUniProt
Pathogenic Variants1
NM_006488.3(KHK):c.127G>A (p.Ala43Thr)Pathogenic
Essential fructosuria
β˜†β˜†β˜†β˜†1994β†’ Residue 43
View on ClinVar β†—
Related Genes
MAPRE1Protein interaction99%SORDProtein interaction96%HKDC1Protein interaction92%MAPRE2Protein interaction88%ALDOAProtein interaction85%ALDOBProtein interaction85%
Tissue Expression6 tissues
Liver
100%
Brain
2%
Bone Marrow
2%
Ovary
1%
Lung
1%
Heart
1%
Gene Interaction Network
Click a node to explore
KHKMAPRE1SORDHKDC1MAPRE2ALDOAALDOB
PROTEIN STRUCTURE
Preparing viewer…
PDB9FHD Β· 1.84 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.36LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.03 [0.79–1.36]
RankingsWhere KHK stands among ~20K protein-coding genes
  • #9,092of 20,598
    Most Researched48
  • #5,110of 5,498
    Most Pathogenic Variants1
  • #14,213of 17,882
    Most Constrained (LOEUF)1.36
Genes detectedKHK
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Molecular aspects of fructose metabolism and metabolic disease.
PMID: 34619074
Cell Metab Β· 2021
1.00
2
Fructose and hepatic insulin resistance.
PMID: 31935149
Crit Rev Clin Lab Sci Β· 2020
0.90
3
mTOR activity paces human blastocyst stage developmental progression.
PMID: 39332412
Cell Β· 2024
0.80
4
Dietary fructose enhances tumour growth indirectly via interorgan lipid transfer.
PMID: 39633044
Nature Β· 2024
0.70
5
NAT10/ac4C/FOXP1 Promotes Malignant Progression and Facilitates Immunosuppression by Reprogramming Glycolytic Metabolism in Cervical Cancer.
PMID: 37818745
Adv Sci (Weinh) Β· 2023
0.60