Aldolase encodes a member of the class I fructose-bisphosphate aldolase protein family. The encoded protein 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. Mutations in this gene have been associated with Glycogen Storage Disease XII, an autosomal recessive disorder associated with hemolytic anemia. Disruption of this gene also plays a role in the progression of multiple types of cancers. Related pseudogenes have been identified on chromosomes 3 and 10.
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Protein Aliases: Aldolase 1; aldolase 1, A isoform; aldolase A, fructose-bisphosphate; epididymis secretory sperm binding protein Li 87p; fructose-1,6-bisphosphate triosephosphate-lyase; Fructose-bisphosphate aldolase A; Lung cancer antigen NY-LU-1; Muscle-type aldolase
Gene Aliases: ALDA; Aldo-1; Aldo1; ALDOA; GSD12; HEL-S-87p; RNALDOG5
Molecular Function: aldolase