NDUFAF6 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human NDUFAF6 wild-type allele is located in the vicinity of 8q22.1 and is approximately 223 kb in length. This allele, which encodes NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 protein, is involved in the assembly of complex I of the mitochondrial respiratory chain. Mutations in the gene are associated with Fanconi renotubular syndrome 5 and nuclear type mitochondrial complex I deficiency type 17.

**Synonyms:** - C8orf38 - Chromosome 8 Open Reading Frame 38 Gene - FRTS5 - Long Non-Coding RNA REplication STress Gene - MC1DN17 - NADH Dehydrogenase (Ubiquinone) Complex I, Assembly Factor 6 Gene - NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 6 wt Allele - lncREST