NDUFAF7

This gene encodes an assembly factor protein which helps in the assembly and stabilization of Complex I, a large multi-subunit enzyme in the mitochondrial respiratory chain. Complex I is involved in several physiological activities in the cell, including metabolite transport and ATP synthesis. The encoded protein is a methyltransferase which methylates Arg85 of a subunit of Complex I in the early stages of its assembly. A pseudogene related to this gene is located on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

Description

NADH:ubiquinone oxidoreductase complex assembly factor 7

Tissue specificity

Tissue enhanced (testis)

Predicted location

Intracellular

Protein family

Disease related genes
Enzymes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Potential drug targets
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

2 (37231631 - 37253403)

Ensembl ID

ENSG00000003509  (ver. 103.38)

Orthologs

Mouse Ndufaf7: ENSMUSG00000024082

UniProt

Q7L592

neXtProt

NX_Q7L592

Human splice variants
Mouse splice variants

Protein structure