NDUFS4 Antibody – Mouse Monoclonal

This gene encodes an nuclear-encoded accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I, or NADH:ubiquinone oxidoreductase). Complex I removes electrons from NADH and passes them to the electron acceptor ubiquinone. Mutations in this gene can cause mitochondrial complex I deficiencies such as Leigh syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

NDUFS4: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in 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 NDUFS4 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 NDUFS4 subunit family.

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

Chromosomal Location of Human Ortholog: 5q11.1

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

Molecular Function: NADH dehydrogenase (ubiquinone) activity

Biological Process: cellular metabolic process; mitochondrial respiratory chain complex I assembly; positive regulation of fibroblast proliferation; cAMP-mediated signaling; regulation of protein amino acid phosphorylation; response to cAMP; mitochondrial electron transport, NADH to ubiquinone; cellular respiration; brain development

Disease: Leigh Syndrome; Mitochondrial Complex I Deficiency