NDUFS1 Antibody – Rabbit Polyclonal

NDUFS1: 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. This is the largest subunit of complex I and it is a component of the iron-sulfur (IP) fragment of the enzyme. It may form part of the active site crevice where NADH is oxidized. Defects in NDUFS1 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 75 kDa subunit family. 4 isoforms of the human protein are produced by alternative splicing.

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

Chromosomal Location of Human Ortholog: 2q33-q34

Cellular Component: mitochondrion; mitochondrial inner membrane; mitochondrial intermembrane space; mitochondrial respiratory chain complex I

Molecular Function: 2 iron, 2 sulfur cluster binding; protein binding; NADH dehydrogenase (ubiquinone) activity; electron carrier activity; metal ion binding; 4 iron, 4 sulfur cluster binding

Biological Process: ATP metabolic process; cellular metabolic process; apoptotic mitochondrial changes; regulation of mitochondrial membrane potential; mitochondrial electron transport, NADH to ubiquinone; cellular respiration

Disease: Mitochondrial Complex I Deficiency