Aldolase est un gène codé par le symbole ALDOA. D'autres noms incluent: Fructose-bisphosphate aldolase A; Lung cancer antigen NY-LU-1; Muscle-type ALDOA; ALDA. Aldolase a une masse de 39.42kDa, une longueur d'acide aminé de 364, et est impliqué dans Glycogen storage disease 12.
Nous proposons 1 Aldolase protéines
Informations sur les Gènes et les Protéines
Résumé UniProt
Plays a key role in glycolysis and gluconeogenesis. In addition, may also function as scaffolding protein (By similarity).
Résumé 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.
Implication dans la maladie
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.
Similitudes de séquence
Belongs to the class I fructose-bisphosphate aldolase family.
Localisation cellulaire
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+).
Liens de base de données
