Aliases for ALDOA Gene
External Ids for ALDOA Gene
Previous GeneCards Identifiers for ALDOA Gene
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]
GeneCards Summary for ALDOA Gene
ALDOA (Aldolase, Fructose-Bisphosphate A) is a Protein Coding gene. Diseases associated with ALDOA include Glycogen Storage Disease Xii and Melanoma-Associated Retinopathy. Among its related pathways are Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways and Metabolism. Gene Ontology (GO) annotations related to this gene include actin binding. An important paralog of this gene is ENSG00000285043.
UniProtKB/Swiss-Prot for ALDOA Gene
Plays a key role in glycolysis and gluconeogenesis. In addition, may also function as scaffolding protein (By similarity).