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MGP000125

UniProt Annotations

Entry Information
Gene Namealdolase B, fructose-bisphosphate
Protein EntryALDOB_HUMAN
UniProt IDP05062
SpeciesHuman
Comments
Comment typeDescription
Biophysicochemical PropertiesKinetic parameters: KM=1.6 uM for fructose 1,6-bisphosphate {ECO:0000269|PubMed:10970798}; KM=2.3 mM for fructose 1-phosphate {ECO:0000269|PubMed:10970798};
Catalytic ActivityD-fructose 1,6-bisphosphate = glycerone phosphate + D-glyceraldehyde 3-phosphate.
DiseaseHereditary fructose intolerance (HFI) [MIM:229600]: Autosomal recessive disease that results in an inability to metabolize fructose and related sugars. Complete exclusion of fructose results in dramatic recovery; however, if not treated properly, HFI subjects suffer episodes of hypoglycemia, general ill condition, and risk of death the remainder of life. {ECO:0000269|PubMed:10024431, ECO:0000269|PubMed:10970798, ECO:0000269|PubMed:12205126, ECO:0000269|PubMed:15532022, ECO:0000269|PubMed:15880727, ECO:0000269|PubMed:1967768, ECO:0000269|PubMed:2336380, ECO:0000269|PubMed:3383242, ECO:0000269|PubMed:8162030, ECO:0000269|PubMed:8299883}. Note=The disease is caused by mutations affecting the gene represented in this entry.
InteractionQ8NFJ9:BBS1; NbExp=4; IntAct=EBI-1045507, EBI-1805484; Q9BXC9:BBS2; NbExp=4; IntAct=EBI-1045507, EBI-748297; Q96RK4:BBS4; NbExp=4; IntAct=EBI-1045507, EBI-1805814; Q8IWZ6:BBS7; NbExp=4; IntAct=EBI-1045507, EBI-1806001;
MiscellaneousIn vertebrates, 3 forms of this ubiquitous glycolytic enzyme are found, aldolase A in muscle, aldolase B in liver and aldolase C in brain.
PathwayCarbohydrate degradation; glycolysis; D-glyceraldehyde 3- phosphate and glycerone phosphate from D-glucose: step 4/4.
SimilarityBelongs to the class I fructose-bisphosphate aldolase family. {ECO:0000305}.
Subcellular LocationCytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite {ECO:0000269|PubMed:18000879}.
SubunitHomotetramer. Interacts with BBS1, BBS2, BBS4 and BBS7. {ECO:0000269|PubMed:18000879}.
Web ResourceName=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/ALDOBID44287ch9q31.html";
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