Gene: NDUFAF5

Alternate names for this Gene: C20orf7|MC1DN16|bA526K24.2|dJ842G6.1

Gene Summary: The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes a mitochondrial protein that is associated with the matrix face of the mitochondrial inner membrane and is required for complex I assembly. A mutation in this gene results in mitochondrial complex I deficiency. Multiple transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 20

Location in Chromosome : 20p12.1

Description of this Gene: NADH:ubiquinone oxidoreductase complex assembly factor 5

Type of Gene: protein-coding

rs757043077 in NDUFAF5 gene and MITOCHONDRIAL COMPLEX I DEFICIENCY PMID 21607760 2012 Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7.

rs757043077 in NDUFAF5 gene and MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 PMID 18940309 2008 Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease.

PMID 19542079 2010 Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome.

PMID 21607760 2012 Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7.