Aliases for NDUFAF6 Gene
External Ids for NDUFAF6 Gene
Previous HGNC Symbols for NDUFAF6 Gene
Previous GeneCards Identifiers 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:Ubiquinone Oxidoreductase Complex Assembly Factor 6) is a Protein Coding gene. Diseases associated with NDUFAF6 include Mitochondrial Complex I Deficiency, Nuclear Type 17 and Leigh Syndrome With Leukodystrophy. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Metabolism. Gene Ontology (GO) annotations related to this gene include transferase activity. An important paralog of this gene is MMGT1.
UniProtKB/Swiss-Prot Summary 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.