Aliases for NDUFAF3 Gene
External Ids for NDUFAF3 Gene
Previous HGNC Symbols for NDUFAF3 Gene
Previous GeneCards Identifiers for NDUFAF3 Gene
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]
GeneCards Summary for NDUFAF3 Gene
NDUFAF3 (NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 3) is a Protein Coding gene. Diseases associated with NDUFAF3 include Mitochondrial Complex I Deficiency, Nuclear Type 18 and Leigh Syndrome With Cardiomyopathy. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Metabolism.
UniProtKB/Swiss-Prot Summary for NDUFAF3 Gene
Essential factor for the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I).