NDUFV1 Antibody – Rabbit Polyclonal

NDUFV1: 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 NDUFV1 are a cause of Leigh syndrome (LS). LS is a severe neurological disorder characterized by bilaterally symmetrical necrotic lesions in subcortical brain regions. Defects in NDUFV1 are a cause of mitochondrial complex I deficiency (MT-C1D). A disorder of the mitochondrial respiratory chain that causes a wide range of clinical disorders, from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. Belongs to the complex I 51 kDa subunit family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: EC 1.6.99.3; EC 1.6.5.3; Energy Metabolism - oxidative phosphorylation; Mitochondrial; Oxidoreductase

Chromosomal Location of Human Ortholog: 11q13

Cellular Component: mitochondrial inner membrane; mitochondrial respiratory chain complex I

Molecular Function: NADH dehydrogenase (ubiquinone) activity; FMN binding; metal ion binding; 4 iron, 4 sulfur cluster binding; NAD binding

Biological Process: cellular metabolic process; mitochondrial electron transport, NADH to ubiquinone

Disease: Mitochondrial Complex I Deficiency