Aliases for NDUFAF7 Gene
- NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 7 2 3 5
- NADH Dehydrogenase (Ubiquinone) Complex I, Assembly Factor 7 2 3
- NADH Dehydrogenase [Ubiquinone] Complex I, Assembly Factor 7 3 4
- Protein Arginine Methyltransferase NDUFAF7, Mitochondrial 3 4
- Mitochondrial Dysfunction Protein A Homolog 2 3
- C2orf56 3 4
External Ids for NDUFAF7 Gene
Previous HGNC Symbols for NDUFAF7 Gene
Previous GeneCards Identifiers for NDUFAF7 Gene
This gene encodes an assembly factor protein which helps in the assembly and stabilization of Complex I, a large multi-subunit enzyme in the mitochondrial respiratory chain. Complex I is involved in several physiological activities in the cell, including metabolite transport and ATP synthesis. The encoded protein is a methyltransferase which methylates Arg85 of a subunit of Complex I in the early stages of its assembly. A pseudogene related to this gene is located on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
GeneCards Summary for NDUFAF7 Gene
NDUFAF7 (NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 7) is a Protein Coding gene. Diseases associated with NDUFAF7 include Myopia and Charcot-Marie-Tooth Disease, Type 4K. 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 enzyme binding and methyltransferase activity.
UniProtKB/Swiss-Prot Summary for NDUFAF7 Gene
Arginine methyltransferase involved in the assembly or stability of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) (PubMed:20406883, PubMed:24089531, PubMed:24838397). Acts by mediating symmetric dimethylation of 'Arg-118' of NDUFS2 after it assembles into the complex I, stabilizing the early intermediate complex (PubMed:24089531).