NDUFAF6 gene

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:

Covered on Genetics Home Reference:

• Leigh syndrome
• Mitochondrial complex I deficiency

From NCBI Gene:

• MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17

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]

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)

• C8orf38
• MC1DN17