ALDOA Lysate – Tissue Lysate

This gene encodes a member of the class I fructose-bisphosphate aldolase protein family. The encoded protein 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. Mutations in this gene have been associated with Glycogen Storage Disease XII, an autosomal recessive disorder associated with hemolytic anemia. Disruption of this gene also plays a role in the progression of multiple types of cancers. Related pseudogenes have been identified on chromosomes 3 and 10. [provided by RefSeq, Sep 2017]

ALDOA: a glycolytic enzyme that catalyzes D-fructose 1,6-bisphosphate -> glycerone phosphate + D-glyceraldehyde 3-phosphate. Three forms of aldolase are found in vertebrates - aldolase A in muscle, aldolase B in liver and aldolase C in brain.

Protein type: Carbohydrate Metabolism - fructose and mannose; Lyase; Carbohydrate Metabolism - pentose phosphate pathway; EC 4.1.2.13; Mitochondrial; Carbohydrate Metabolism - glycolysis and gluconeogenesis

Chromosomal Location of Human Ortholog: 16p11.2

Cellular Component: I band; extracellular space; membrane; extracellular region; M band; cytosol; nucleus; actin cytoskeleton

Molecular Function: tubulin binding; identical protein binding; protein binding; cytoskeletal protein binding; fructose-bisphosphate aldolase activity; actin binding

Biological Process: platelet activation; glycolysis; striated muscle contraction; glucose metabolic process; actin filament organization; pathogenesis; protein homotetramerization; gluconeogenesis; muscle maintenance; regulation of cell shape; fructose 1,6-bisphosphate metabolic process; platelet degranulation; ATP biosynthetic process; carbohydrate metabolic process; blood coagulation; fructose metabolic process

Disease: Glycogen Storage Disease Xii