IDH2 est un gène codé par le symbole IDH2. Communément appelé aussi: Isocitrate dehydrogenase [NADP], mitochondrial; IDH; ICD-M; IDP; NADP(+)-specific ICDH; Oxalosuccinate decarboxylase. IDH2 a une masse de 50.91kDa, une longueur d'acide aminé de 452, et est impliqué dans les maladies: D-2-hydroxyglutaric aciduria 2; Glioma.
Nous proposons 10 des anticorps contre IDH2, élevé dans Lapin et Chèvre, qui sont appropriés pour le WB, IHC, ELISA, ICC/IF, IP et ChIP avec des échantillons dérivés de Humain, Souris, Rat et Porcin.
Informations sur les Gènes et les Protéines
Résumé UniProt
Plays a role in intermediary metabolism and energy production. It may tightly associate or interact with the pyruvate dehydrogenase complex.
Résumé Entrez
Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. Each NADP(+)-dependent isozyme is a homodimer. The protein encoded by this gene is the NADP(+)-dependent isocitrate dehydrogenase found in the mitochondria. It plays a role in intermediary metabolism and energy production. This protein may tightly associate or interact with the pyruvate dehydrogenase complex. Alternative splicing results in multiple transcript variants.
Implication dans la maladie
D-2-hydroxyglutaric aciduria 2: A neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. Both a mild and a severe phenotype exist. The severe phenotype is homogeneous and is characterized by early infantile-onset epileptic encephalopathy and cardiomyopathy. The mild phenotype has a more variable clinical presentation. Diagnosis is based on the presence of an excess of D-2-hydroxyglutaric acid in the urine.
Glioma: Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes.
Similitudes de séquence
Belongs to the isocitrate and isopropylmalate dehydrogenases family.
Modification post-traductionnelle
Acetylation at Lys-413 dramatically reduces catalytic activity. Deacetylated by SIRT3.
Localisation cellulaire
Mitochondrion.
