ALDOA, ALDA, Fructose-bisphosphate aldolase A, Lung cancer antigen NY-LU-1, Muscle-type aldolase
The protein encoded by this gene, Aldolase A (fructose-bisphosphate aldolase), is a glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Three aldolase isozymes (A, B, and C), encoded by three different genes, are differentially expressed during development. Aldolase A is found in the developing embryo and is produced in even greater amounts in adult muscle. Aldolase A expression is repressed in adult liver, kidney and intestine and similar to aldolase C levels in brain and other nervous tissue. Aldolase A deficiency has been associated with myopathy and hemolytic anemia. Alternative splicing and alternative promoter usage results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 3 and 10. [provided by RefSeq, Aug 2011],catalytic activity:D-fructose 1,6-bisphosphate = glycerone phosphate + D-glyceraldehyde 3-phosphate.,disease:Defects in ALDOA are the cause of aldolase A deficiency [MIM:611881], also known as aldoA deficiency or red cell aldolase deficiency. Aldolase A deficiency is an autosomal recessive disorder associated with hereditary hemolytic anemia.,miscellaneous:In vertebrates, three forms of this ubiquitous glycolytic enzyme are found, aldolase A in muscle, aldolase B in liver and aldolase C in brain.,pathway:Carbohydrate degradation, glycolysis, D-glyceraldehyde 3-phosphate and glycerone phosphate from D-glucose: step 4/4.,similarity:Belongs to the class I fructose-bisphosphate aldolase family.,subunit:Homotetramer.,
