NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6 [ Homo sapiens (human) ]
Source: NCBI Gene (ID 137682)
Source: NCBI Gene (ID 137682)
Symbol: NDUFAF6
Full name: NADH:ubiquinone oxidoreductase complex assembly factor 6
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Also known as: C8orf38; FRTS5; MC1DN17
Summary: 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]
Expression: Ubiquitous expression in thyroid (RPKM 1.4), testis (RPKM 1.4) and 25 other tissues
Orthologs: mouse
Gene size: 222698bp
Exon count: 27