NDUFS1 Antibody – Rabbit Polyclonal

The protein encoded by this gene belongs to the complex I 75 kDa subunit family. Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. This protein 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. Mutations in this gene are associated with complex I deficiency. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]

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: EC 1.6.99.3; Mitochondrial; Oxidoreductase; EC 1.6.5.3; 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; electron carrier activity; NADH dehydrogenase (ubiquinone) activity; 4 iron, 4 sulfur cluster binding; metal ion binding

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

Disease: Mitochondrial Complex I Deficiency