NDUFAF6

Description

The NDUFAF6 (NADH:ubiquinone oxidoreductase complex assembly factor 6) is a protein-coding gene located on chromosome 8.

NDUFAF6 is a human gene that encodes a protein involved in the assembly of Complex I in the mitochondrial electron transport chain. Mutations in the NDUFAF6 gene have been linked to Complex I deficiency, Leigh syndrome, and Acadian variant Fanconi Syndrome. The gene is located on the q arm of chromosome 8 in position 22.1 and spans 222,728 base pairs. It produces a 38.2 kDa protein composed of 333 amino acids. The protein contains a predicted phytoene synthase domain. NDUFAF6 localizes to mitochondria and plays a crucial role in assembling Complex I through the regulation of subunit ND1 biogenesis. Leigh syndrome, characterized by central nervous system lesions and rapid cognitive and motor deterioration, is caused by mutations in the NDUFAF6 gene. Acadian variant Fanconi Syndrome, characterized by pulmonary interstitial fibrosis, proximal tubular dysfunction, and slow progressive kidney disease, is caused by a non-coding mutation in NDUFAF6 in Acadians.

NDUFAF6 is also known as C8orf38, FRTS5, MC1DN17.

Associated Diseases

• Fanconi renotubular syndrome 5
• Primary Fanconi renotubular syndrome
• Mitochondrial complex I deficiency, nuclear type 17