NDUFAF6

This gene encodes a protein that localizes to mitochondria and contains a predicted phytoene synthase domain. The encoded protein plays an important role in the assembly of complex I (NADH-ubiquinone oxidoreductase) of the mitochondrial respiratory chain through regulation of subunit ND1 biogenesis. Mutations in this gene are associated with complex I enzymatic deficiency. [provided by RefSeq, Nov 2011]

Description

NADH:ubiquinone oxidoreductase complex assembly factor 6

Protein family

Disease related genes, Mapped to neXtProt, Mapped to UniProt SWISS-PROT, Predicted intracellular proteins, Protein evidence (Peptideatlas)

Chromosome

8:q22.1 (94895767 - 95116455)

Ensembl ID

ENSG00000156170  (ver. 99.38)

Orthologs

Mouse Ndufaf6: ENSMUSG00000050323

UniProt

Q330K2

neXtProt

NX_Q330K2

Human splice variants
Mouse splice variants