ALDOA(redirected from GSD12)
ALDOAA gene on chromosome 16p11.2 that encodes aldolase A (fructose-bisphosphate aldolase), a glycolytic enzyme that catalyses the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. It is expressed in the developing embryo and in adult muscle, and actively repressed in adult liver, kidney and intestine.
Aldolase A deficiency is associated with myopathy and haemolytic anaemia.
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