NDUFAF1

This gene encodes a complex I assembly factor protein. Complex I (NADH-ubiquinone oxidoreductase) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. The encoded protein is required for assembly of complex I, and mutations in this gene are a cause of mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19. [provided by RefSeq, Dec 2011]

Description

NADH:ubiquinone oxidoreductase complex assembly factor 1

Tissue specificity

Low tissue specificity

Subcell location

Mitochondria, Cytosol

Predicted location

Intracellular

Protein family

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

Chromosome

15 (41387218 - 41409403)

Ensembl ID

ENSG00000137806  (ver. 103.38)

Orthologs

Mouse Ndufaf1: ENSMUSG00000027305

UniProt

Q9Y375

neXtProt

NX_Q9Y375

Human splice variants
Mouse splice variants

Protein structure