NDUFAF5

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. [provided by RefSeq, Oct 2009]

Description

NADH:ubiquinone oxidoreductase complex assembly factor 5

Tissue specificity

Tissue enhanced (skeletal muscle)

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

20 (13785007 - 13821580)

Ensembl ID

ENSG00000101247  (ver. 103.38)

Orthologs

Mouse Ndufaf5: ENSMUSG00000027384

UniProt

Q5TEU4

neXtProt

NX_Q5TEU4

Human splice variants
Mouse splice variants

Protein structure