Aliases for ALDOA Gene
External Ids for ALDOA Gene
Previous GeneCards Identifiers for ALDOA Gene
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]
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 Platelet activation, signaling and aggregation and HIF-1 signaling pathway. GO annotations related to this gene include poly(A) RNA binding and actin binding. An important paralog of this gene is ALDOC.
UniProtKB/Swiss-Prot for ALDOA Gene
Plays a key role in glycolysis and gluconeogenesis. In addition, may also function as scaffolding protein (By similarity).