Aldolase ist ein Gen, das durch das Symbol ALDOA kodiert wird. Andere Namen sind: Fructose-bisphosphate aldolase A; Lung cancer antigen NY-LU-1; Muscle-type ALDOA; ALDA. Aldolase hat eine Masse von 39.42kDa, eine Aminosäurelänge von 364, und ist an Glycogen storage disease 12 beteiligt.
Wir bieten 1 Aldolaseproteine an
Gen- und Proteininformationen
UniProt Zusammenfassung
Plays a key role in glycolysis and gluconeogenesis. In addition, may also function as scaffolding protein (By similarity).
Entrez Zusammenfassung
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.
Rolle bei Krankheiten
Glycogen storage disease 12: A metabolic disorder associated with increased hepatic glycogen and hemolytic anemia. It may lead to myopathy with exercise intolerance and rhabdomyolysis.
Sequenzähnlichkeiten
Belongs to the class I fructose-bisphosphate aldolase family.
Zellort
Cytoplasm > Myofibril > Sarcomere > I band. Cytoplasm > Myofibril > Sarcomere > 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 Ca(2+).
