Aldolase è un gene codificato dal simbolo ALDOA. Altri nomi includono: Fructose-bisphosphate aldolase A; Lung cancer antigen NY-LU-1; Muscle-type ALDOA; ALDA. Aldolase ha una massa di 39.42kDa, una lunghezza di amminoacidi di 364, ed è implicato in Glycogen storage disease 12.
Offriamo 16 anticorpi contro Aldolase, allevati nel Coniglio, Topo, Capra e Sheep, che sono adatti per WB, IHC, ELISA, ICC/IF, Citometria a Flusso, IP e Dot con campioni derivati da Umano, Topo, Ratto e Coniglio.
Informazioni su geni e proteine
Riepilogo UniProt
Plays a key role in glycolysis and gluconeogenesis. In addition, may also function as scaffolding protein (By similarity).
Sommario di Entrez
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.
Coinvolgimento nella malattia
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.
Somiglianze di sequenza
Belongs to the class I fructose-bisphosphate aldolase family.
Posizione cellulare
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+).
