Plays a key role in glycolysis and gluconeogenesis. In addition, may also function as scaffolding protein .Defects in ALDOA are the cause of glycogen storage disease type 12 (GSD12) [MIM:611881]; also known as red cell aldolase deficiency. A metabolic disorder associated with increased hepatic glycogen and hemolytic anemia. It may lead to myopathy with exercise intolerance and rhabdomyolysis.Belongs to the class I fructose-bisphosphate aldolase family.
[1]"Nucleotide sequence of a cDNA clone for human aldolase: a messenger RNA in the liver." Sakakibara M., Mukai T., Hori K. Biochem. Biophys. Res. Commun. 131:413-420(1985) [2]"A new human species of aldolase A mRNA from fibroblasts." Izzo P., Costanz