| NDUFAF6 | |||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | NDUFAF6, C8orf38, NADH:ubiquinone oxidoreductase complex assembly factor 6 | ||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 612392 MGI: 1924197 HomoloGene: 43831 GeneCards: NDUFAF6 | ||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||
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NADH:ubiquinone oxidoreductase complex assembly factor 6 is a protein that in humans is encoded by the NDUFAF6 gene. The protein is involved in the assembly of complex I in the mitochondrial electron transport chain.Mutations in the NDUFAF6 gene have been shown to cause Complex I deficiency, Leigh syndrome, and Acadian variant Fanconi Syndrome.
Structure
The NDUFAF6 gene is located on the q arm of chromosome 8 in position 22.1 and spans 222,728 base pairs. The gene produces a 38.2 kDa protein composed of 333 amino acids. The protein contains a predicted phytoene synthase domain.
Function
The NDUFAF6 gene encodes a protein that localizes to mitochondria. 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.
Clinical Significance
Mutations in the NDUFAF6 gene are associated with complex I enzymatic deficiency and lead to Leigh syndrome, which is characterized by lesions in the central nervous system and rapid deterioration of cognitive and motor functions. In Acadians, a non-coding mutation in NDUFAF6 has been shown to cause Acadian variant Fanconi Syndrome, symptoms of which include pulmonary interstitial fibrosis and proximal tubular dysfunction accompanied by slowly progressive kidney disease. Inheritance of mutations in the NDUFAF6 gene is autosomal recessive.
Interactions
The protein encoded by NDUFAF6 interacts with RHOXF2, OTX1, GUCD1, and GALNT6 proteins.
Further reading
- Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ (September 2010). "Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression". PLOS ONE. 5 (9): e12862. Bibcode:2010PLoSO...512862H. doi:10.1371/journal.pone.0012862. PMC 2943476. PMID 20877624.
- McKenzie M, Tucker EJ, Compton AG, Lazarou M, George C, Thorburn DR, Ryan MT (December 2011). "Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1". J. Mol. Biol. 414 (3): 413–26. doi:10.1016/j.jmb.2011.10.012. PMID 22019594.
- Zhang K, Li Z, Jaiswal M, Bayat V, Xiong B, Sandoval H, Charng WL, David G, Haueter C, Yamamoto S, Graham BH, Bellen HJ (March 2013). "The C8ORF38 homologue Sicily is a cytosolic chaperone for a mitochondrial complex I subunit". J. Cell Biol. 200 (6): 807–20. doi:10.1083/jcb.201208033. PMC 3601355. PMID 23509070.
- Hartmannová H, Piherová L, Tauchmannová K, Kidd K, Acott PD, Crocker JF, Oussedik Y, Mallet M, Hodaňová K, Stránecký V, Přistoupilová A, Barešová V, Jedličková I, Živná M, Sovová J, Hůlková H, Robins V, Vrbacký M, Pecina P, Kaplanová V, Houštěk J, Mráček T, Thibeault Y, Bleyer AJ, Kmoch S (September 2016). "Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6". Hum. Mol. Genet. 25 (18): 4062–4079. doi:10.1093/hmg/ddw245. PMID 27466185.
- Bianciardi L, Imperatore V, Fernandez-Vizarra E, Lopomo A, Falabella M, Furini S, Galluzzi P, Grosso S, Zeviani M, Renieri A, Mari F, Frullanti E (November 2016). "Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene". Mol. Genet. Metab. 119 (3): 214–222. doi:10.1016/j.ymgme.2016.09.001. PMID 27623250.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.