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MGP001749

UniProt Annotations

Entry Information
Gene Nameketohexokinase (fructokinase)
Protein EntryKHK_HUMAN
UniProt IDP50053
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=A; Synonyms=Central, hepatic/renal/intestinal; IsoId=P50053-1; Sequence=Displayed; Name=C; Synonyms=Peripheral; IsoId=P50053-2; Sequence=VSP_004669; Note=More widely distributed but with a low expression level.;
Catalytic ActivityATP + D-fructose = ADP + D-fructose 1- phosphate.
DiseaseFructosuria (FRUCT) [MIM:229800]: Benign defect of intermediary metabolism. {ECO:0000269|PubMed:7833921}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Enzyme RegulationRequires potassium. Inhibition by ADP.
PathwayCarbohydrate metabolism; fructose metabolism.
SimilarityBelongs to the carbohydrate kinase PfkB family. {ECO:0000305}.
SubunitHomodimer. {ECO:0000269|PubMed:19237742}.
Tissue SpecificityMost abundant in liver, kidney, gut, spleen and pancreas. Low levels also found in adrenal, muscle, brain and eye.
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