MT-ND5 è un gene codificato dal simbolo MT-ND5. Comunemente indicato anche come: NADH-ubiquinone oxidoreductase chain 5; NADH dehydrogenase subunit 5; MTND5; NADH5; ND5. MT-ND5 ha una massa di 67.03kDa, una lunghezza di amminoacidi di 603, ed è implicato nella malattia: Leber hereditary optic neuropathy; Leigh syndrome; Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome.
Offriamo 8 anticorpi contro MT-ND5, allevati nel Coniglio, che sono adatti per WB, IHC e ELISA con campioni derivati da Umano, Topo e Ratto.
Informazioni su geni e proteine
Riepilogo 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).
Coinvolgimento nella malattia
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.
Somiglianze di sequenza
Belongs to the complex I subunit 5 family.
Posizione cellulare
Mitochondrion inner membrane.
