ALDOA, Official Symbol ALDOAprovided by HGNC Official Full Name aldolase, fructose-bisphosphate Aprovided by HGNC Primary source HGNC:HGNC:414 See related Ensembl:ENSG00000149925 MIM:103850; AllianceGenome:HGNC:414 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ALDA; GSD12; HEL-S-87p Summary This gene 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. [provided by RefSeq, Sep 2017] Expression Ubiquitous expression in heart (RPKM 290.3), esophagus (RPKM 221.3) and 25 other tissues See more Orthologs mouse all