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 Metabolism and Immune System. 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).