ALDOB Antibody – Mouse Monoclonal

Fructose-1,6-bisphosphate aldolase (EC 4.1.2.13) is a tetrameric glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Vertebrates have 3 aldolase isozymes which are distinguished by their electrophoretic and catalytic properties. Differences indicate that aldolases A, B, and C are distinct proteins, the products of a family of related 'housekeeping' genes exhibiting developmentally regulated expression of the different isozymes. The developing embryo produces aldolase A, which is produced in even greater amounts in adult muscle where it can be as much as 5% of total cellular protein. In adult liver, kidney and intestine, aldolase A expression is repressed and aldolase B is produced. In brain and other nervous tissue, aldolase A and C are expressed about equally. There is a high degree of homology between aldolase A and C. Defects in ALDOB cause hereditary fructose intolerance. [provided by RefSeq, Dec 2008]

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.

Protein type: Carbohydrate Metabolism - glycolysis and gluconeogenesis; Carbohydrate Metabolism - fructose and mannose; EC 4.1.2.13; Carbohydrate Metabolism - pentose phosphate pathway; Lyase

Chromosomal Location of Human Ortholog: 9q21.3-q22.2

Cellular Component: microtubule organizing center; cytosol

Molecular Function: identical protein binding; protein binding; cytoskeletal protein binding; fructose-bisphosphate aldolase activity; ATPase binding

Biological Process: fructose 1,6-bisphosphate metabolic process; NADH oxidation; glycolysis; positive regulation of ATPase activity; carbohydrate metabolic process; glucose metabolic process; pathogenesis; fructose catabolic process; gluconeogenesis; fructose metabolic process

Disease: Fructose Intolerance, Hereditary