NDUFAF3 siRNA – NADH Dehydrogenase (Human)

This gene encodes a mitochondrial complex I assembly protein that interacts with complex I subunits. Mutations in this gene cause mitochondrial complex I deficiency, a fatal neonatal disorder of the oxidative phosphorylation system. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2009]

NDUFAF3: Essential factor for the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). Defects in NDUFAF3 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. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Mitochondrial

Chromosomal Location of Human Ortholog: 3p21.31

Cellular Component: mitochondrial inner membrane; nucleus

Molecular Function: protein binding

Biological Process: mitochondrial respiratory chain complex I assembly

Disease: Mitochondrial Complex I Deficiency