NDUFAF4

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Identifiers
Aliases
External IDs	GeneCards: [1]
Orthologs
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a
Wikidata
View/Edit Human

NADH:ubiquinone oxidoreductase complex assembly factor 4 is a protein that in humans is encoded by the NDUFAF4 gene.

Function

NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene are a cause of mitochondrial complex I deficiency.

Further reading

• Karp CM, Shukla MN, Buckley DJ, Buckley AR (2007). "HRPAP20: a novel calmodulin-binding protein that increases breast cancer cell invasion". Oncogene. 26 (12): 1780–8. doi:10.1038/sj.onc.1209980. PMID 17001319.
• Tozlu-Kara S, Roux V, Andrieu C, Vendrell J, Vacher S, Lazar V, Spyratos F, Tubiana-Hulin M, Cohen P, Dessen P, Lidereau R, Bièche I (2007). "Oligonucleotide microarray analysis of estrogen receptor alpha-positive postmenopausal breast carcinomas: identification of HRPAP20 and TIMELESS as outstanding candidate markers to predict the response to tamoxifen". J. Mol. Endocrinol. 39 (4): 305–18. doi:10.1677/JME-07-0001. PMID 17909269.
• Saada A, Edvardson S, Rapoport M, Shaag A, Amry K, Miller C, Lorberboum-Galski H, Elpeleg O (2008). "C6ORF66 is an assembly factor of mitochondrial complex I". Am. J. Hum. Genet. 82 (1): 32–8. doi:10.1016/j.ajhg.2007.08.003. PMC 2253982. PMID 18179882.
• Zimmermann FA, Mayr JA, Neureiter D, Feichtinger R, Alinger B, Jones ND, Eder W, Sperl W, Kofler B (2009). "Lack of complex I is associated with oncocytic thyroid tumours". Br. J. Cancer. 100 (9): 1434–7. doi:10.1038/sj.bjc.6605028. PMC 2694433. PMID 19352385.
• Saada A, Vogel RO, Hoefs SJ, van den Brand MA, Wessels HJ, Willems PH, Venselaar H, Shaag A, Barghuti F, Reish O, Shohat M, Huynen MA, Smeitink JA, van den Heuvel LP, Nijtmans LG (2009). "Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease". Am. J. Hum. Genet. 84 (6): 718–27. doi:10.1016/j.ajhg.2009.04.020. PMC 2694978. PMID 19463981.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.