MT-ND5 est un gène codé par le symbole MT-ND5. Communément appelé aussi: NADH-ubiquinone oxidoreductase chain 5; NADH dehydrogenase subunit 5; MTND5; NADH5; ND5. MT-ND5 a une masse de 67.03kDa, une longueur d'acide aminé de 603, et est impliqué dans les maladies: Leber hereditary optic neuropathy; Leigh syndrome; Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome.
Nous proposons 8 des anticorps contre MT-ND5, élevé dans Lapin, qui sont appropriés pour le WB, IHC et ELISA avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity).
Implication dans la maladie
Leber hereditary optic neuropathy: A maternally inherited disease resulting in acute or subacute loss of central vision, due to optic nerve dysfunction. Cardiac conduction defects and neurological defects have also been described in some patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes.
Leigh syndrome: An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia.
Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome: Genetically heterogeneous disorder, characterized by episodic vomiting, seizures, and recurrent cerebral insults resembling strokes and causing hemiparesis, hemianopsia, or cortical blindness.
Similitudes de séquence
Belongs to the complex I subunit 5 family.
Localisation cellulaire
Mitochondrion inner membrane.
