ALDOA


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ALDOA

A 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.

Molecular pathology
Aldolase A deficiency is associated with myopathy and haemolytic anaemia.
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The top 20 downregulated genes in the model group are involved in fatty acid metabolism (ACAA2, ACSL1, ACADM, and DCI) and glycolysis (ALDOA, LDHB, MDH2, and PDHA1).
Nevertheless, CAPN3, especially those associated with the sarcoplasmic reticulum (SR) membrane (Kramerova et al., 2006), has a confirmed role in regulating calcium release in skeletal muscle in the maintenance of a protein complex (AldoA and RyR) (Kramerova et al., 2008).
The reaction parameters were as follows: ERP29, PSMB6, ALDOA, and PHGDH, 95 C 3 min, 95[degrees]C 30 s, 51[degrees]C 30 s, 72[degrees]C 30 s for 45 cycles, 72[degrees]C extension 30 s; ECH1 and TPI1, 95[degrees]C 3 min, 95[degrees]C 30 s, 52[degrees]C 30 s, 72[degrees]C 30 s for 40 cycles, 72[degrees]C extension 30 s; PAFAH1B2, 95[degrees]C 3 min, 95[degrees]C 30 s, 52[degrees]C 10 s, 72[degrees]C 10 s for 35 cycles, 72[degrees]C extension 2 min; ACTB (encoding ( [beta] - actin, used as a control) 95[degrees]C 3 min, 95[degrees]C 30 s, 56[degrees]C 10 s, 72[degrees]C 10 s for 45 cycles, 72[degrees]C extension 2 min.