NADH Ubiquinone Oxidoreductase Chain 1 (Mt ND1) (MT ND1) ELISA Kit for Human

MT-ND1: 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. Defects in MT-ND1 are a cause of Leber hereditary optic neuropathy (LHON). LHON is 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. Defects in MT-ND1 are a cause of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS). MELAS is a genetically heterogenious disorder, characterized by episodic vomiting, seizures, and recurrent cerebral insults resembling strokes and causing hemiparesis, hemianopsia, or cortical blindness. Defects in MT-ND1 may be associated with susceptibility to Alzheimer disease mitochondrial (AD-MT). Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituent of these plaques is the neurotoxic amyloid-beta-APP 40-42 peptide (s), derived proteolytically from the transmembrane precursor protein APP by sequential secretase processing. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products such as C31 derived from APP, are also implicated in neuronal death. Genetic variation in MT-ND1 might contribute ot the pathogenesis of non-insulin-dependent diabetes mellitus (NIDDM). Belongs to the complex I subunit 1 family.

Protein type: Membrane protein, multi-pass; Membrane protein, integral; Oxidoreductase; Energy Metabolism - oxidative phosphorylation; Mitochondrial; EC 1.6.5.3

Chromosomal Location of Human Ortholog: -

Disease: Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-like Episodes; Leber Optic Atrophy