NDUFAF6

General Information

Full gene name:NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 Entrez Gene ID:137682 Location:8q22.1 Synonyms:C8orf38 Type:protein-coding

User SNPs

SNPs given by the user that are near or inside this gene:

SNP	Distance (bp)	Direction
rs896854	76710	upstream

NCBI Summary

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]

OMIM

No OMIM data available for this gene.

NCBI Phenotypes

• Gene Reviews
• GTR
• Leigh’s disease
• OMIM

Gene Ontology

• mitochondrial respiratory chain complex I assembly
• biosynthetic process
• mitochondrial inner membrane
• transferase activity
• nucleus
• cytoplasm

KEGG Pathways

No pathways found linked to this gene.

GeneRIFs

• C8orf38 is a crucial factor required for the translation and/or integration of ND1 into an early-stage assembly intermediate [PMID 22019594]
• Observational study of gene-disease association. (HuGE Navigator) [PMID 20877624]

PubMed Articles

Recent articles:

• McKenzie M et al. “Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1.” J Mol Biol. 2011 Dec 2;414(3):413-26. PMID 22019594
• Hendrickson SL et al. “Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.” PLoS One. 2010 Sep 21;5(9):e12862. PMID 20877624
• Mckenzie M et al. “Assembly factors of human mitochondrial complex I and their defects in disease.” IUBMB Life. 2010 Jul;62(7):497-502. PMID 20552642
• Thorburn DR et al. “Mitochondrial DNA-Associated Leigh Syndrome and NARP.” None 1993;. PMID 20301352
• Chinnery PF et al. “Mitochondrial Disorders Overview.” None 1993;. PMID 20301403
• DiMauro S et al. “Mitochondrial DNA Deletion Syndromes.” None 1993;. PMID 20301382
• Saada A et al. “Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.” Am J Hum Genet. 2009 Jun;84(6):718-27. PMID 19463981
• Pagliarini DJ et al. “A mitochondrial protein compendium elucidates complex I disease biology.” Cell. 2008 Jul 11;134(1):112-23. PMID 18614015
• Kimura K et al. “Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.” Genome Res. 2006 Jan;16(1):55-65. PMID 16344560
• Oh JH et al. “Transcriptome analysis of human gastric cancer.” Mamm Genome. 2005 Dec;16(12):942-54. PMID 16341674

Top Pubmed articles linked to gene NDUFAF6 matching any search term:

• Chinnery PF et al. “Mitochondrial Disorders Overview.” None 1993;. PMID 20301403