NDUFAF6 gene
NADH:ubiquinone oxidoreductase complex assembly factor 6
The information on this page was automatically extracted from online scientific databases.
From NCBI Gene:
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]
From UniProt:
Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) at early stages. May play a role in the biogenesis of MT-ND1.
Related Information
Covered on Genetics Home Reference:
From NCBI Gene:
- Leigh syndrome
From UniProt:
Mitochondrial complex I deficiency (MT-C1D): A disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. [MIM:252010]
Related Information
Cytogenetic Location: 8q22.1, which is the long (q) arm of chromosome 8 at position 22.1
Molecular Location: base pairs 94,895,768 to 95,118,496 on chromosome 8 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Related Information
- C8orf38