ALDOA

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]

Aldolase, Fructose-Bisphosphate A

Plays a key role in glycolysis and gluconeogenesis. In addition, may also function as scaffolding protein (By similarity).

Actin filament organization Source: BHF-UCL
ATP biosynthetic process Source: BHF-UCL
Binding of sperm to zona pellucida Source: CAFA
Canonical glycolysis Source: Reactome
Fructose 1,6-bisphosphate metabolic process Source: BHF-UCL
Fructose metabolic process Source: BHF-UCL
Gluconeogenesis Source: Reactome
Glycolytic process Source: BHF-UCL
Muscle cell cellular homeostasis Source: BHF-UCL
Neutrophil degranulation Source: Reactome
Platelet degranulation Source: Reactome
Protein homotetramerization Source: UniProtKB
Regulation of cell shape Source: BHF-UCL
Striated muscle contraction Source: BHF-UCL

I band; M line. In skeletal muscle, accumulates around the M line and within the I band, colocalizing with FBP2 on both sides of the Z line in the absence of Ca2+.

Glycogen storage disease 12 (GSD12): A metabolic disorder associated with increased hepatic glycogen and hemolytic anemia. It may lead to myopathy with exercise intolerance and rhabdomyolysis.