NU6M rabbit pAb

Catalytic activity: NADH + ubiquinone = NAD (+) + ubiquinol. Disease: Defects in MT-ND6 are a cause of Leber hereditary optic neuropathy (LHON) [MIM: 535000]. 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. Disease: Defects in MT-ND6 are a cause of Leber hereditary optic neuropathy with dystonia (LDYT) [MIM: 500001]; also called familial dystonia with visual failure and striatal lucencies. LDYT is part of a spectrum of Leber hereditary optic neuropathy. It is characterized by the association of optic atrophy and central vision loss with dystonia. Disease: Defects in MT-ND6 are a cause of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM: 540000]. MELAS is a genetically heterogenious disorder, characterized by episodic vomiting, seizures, and recurrent cerebral insults resembling strokes and causing hemiparesis, hemianopsia, or cortical blindness. function: 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. similarity: Belongs to the complex I subunit 6 family.