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aldoa

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Official Full Name
aldolase A, fructose-bisphosphate
Background
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.
Synonyms
ALDOA; aldolase A, fructose-bisphosphate; fructose-bisphosphate aldolase A; ALDA; Aldolase A fructose bisphosphatase; OTTHUMP00000162983; OTTHUMP00000162984; muscle-type aldolase; lung cancer antigen NY-LU-1; fructose-1,6-bisphosphate triosephosphate-lyase; GSD12; ALDA, GSD12

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