Aliases for NDUFAF6 Gene
External Ids for NDUFAF6 Gene
Previous Symbols for NDUFAF6 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]
GeneCards Summary for NDUFAF6 Gene
NDUFAF6 (NADH Dehydrogenase (Ubiquinone) Complex I, Assembly Factor 6) is a Protein Coding gene. Diseases associated with NDUFAF6 include leigh syndrome with leukodystrophy and leigh syndrome. GO annotations related to this gene include transferase activity.
UniProtKB/Swiss-Prot for NDUFAF6 Gene
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.