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ALDOB Defects in ALDOB are the cause of hereditary fructose intolerance (HFI). HFI is an 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. Belongs to the class I fructose-bisphosphate aldolase family. Note: This description may include information from UniProtKB.
Protein type: Carbohydrate Metabolism - fructose and mannose; Carbohydrate Metabolism - glycolysis and gluconeogenesis; Carbohydrate Metabolism - pentose phosphate pathway; EC; Lyase
Chromosomal Location of Human Ortholog: 9q31.1
Cellular Component: cytosol; microtubule organizing center
Molecular Function: ATPase binding; cytoskeletal protein binding; fructose-bisphosphate aldolase activity; identical protein binding; protein binding
Biological Process: fructose 1,6-bisphosphate metabolic process; fructose metabolic process; gluconeogenesis; glycolysis; NADH oxidation; positive regulation of ATPase activity
Disease: Fructose Intolerance, Hereditary
Reference #:  P05062 (UniProtKB)
Alt. Names/Synonyms: ALDB; ALDO2; ALDOB; aldolase 2; aldolase B, fructose-bisphosphatase; aldolase B, fructose-bisphosphate; Fructose-bisphosphate aldolase B; Liver-type aldolase
Gene Symbols: ALDOB
Molecular weight: 39,473 Da
Basal Isoelectric point: 8.01  Predict pI for various phosphorylation states
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Protein Structure Not Found.
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