Table 5.
Mitochondrial gene functions affected in mitochondrial patients (group 1).
| Gene | Function | References |
|---|---|---|
| Mitochondrial substrate metabolism | ||
| AMACR | Alpha-methylacyl-CoA racemase | Mubiru et al., 2004 |
| Mitochondrial protein metabolism; translation and degradation | ||
| AARS2 | alanyl-tRNA synthetase | Götz et al., 2011 |
| MTFMT (2x) | Mitochondrial methionyl-tRNA formyltransferase | Takeuchi et al., 1998 |
| MTO1 | tRNA modification and protein synthesis | Ghezzi et al., 2012 |
| KARS | lysyl-tRNA synthetase | Targoff et al., 1993 |
| QRSL1 | glu-tRNA synthetase | Nagao et al., 2009 |
| TRMU | Mitochondrial tRNA modification | Yan and Guan, 2004 |
| C12ORF65 | Release proteins from ribosomes | Antonicka et al., 2010 |
| SPG7(2x) | Part of the m-AAA metalloproteinase complex | Warnecke et al., 2007 |
| Mitochondrial phospholipid metabolism | ||
| SERAC1* | Phosphatidylglycerol remodeling | Wortmann et al., 2012 |
| TAZ | Cardiolipin remodeling | Acehan et al., 2011 |
| ETC subunits, assembly factors, cofactors | ||
| NDUFA12 | Complex I subunit | Triepels et al., 2000 |
| NDUFS7 | Complex I subunit | Visch et al., 2004 |
| NDUFV2 | Complex I subunit | de Coo et al., 1997 |
| COQ7 | Coenzyme Q biosynthesis | Freyer et al., 2015 |
| TMEM126B | Complex I assembly factor | Andrews et al., 2013 |
| ATPAF2 | Complex V assembly factor | Wang et al., 2001 |
| NDUFAF5 | Complex I assembly factor | Sugiana et al., 2008 |
| NDUFAF4 | Complex I assembly factor | Karp et al., 2004 |
| TMEM126A | Complex I assembly factor | Wessels et al., 2013 |
| mtDNA maintenance, replication and nucleotide metabolism | ||
| RRM2B | Ribonucleotide reductase | Bourdon et al., 2007 |
| FBXL4 (2x) | Phosphorylation-dependent ubiquitination | Bonnen et al., 2013 |
| PYCR2 | Pyrroline-5-carboxylate reductase | Kuo et al., 2016 |
| Twinkle (C10ORF2) | mtDNA helicase | Spelbrink et al., 2001 |
| POLG1 (2x) | mtDNA polymerase | Lestienne, 1987 |
| Mitochondrial fusion and fission | ||
| SLC25A46 | Interacts with mitochondrial fusion machinery | Janer et al., 2016 |
| MFN2 | Mitochondrial fusion | Santel and Fuller, 2001 |
| Mitochondrial localization | ||
| C19orf12 | Function unclear | Landoure et al., 2013 |
| No mitochondrial localization or function reported | ||
| SLC19A3 (2x) | Transmembrane thiamine transporter | Vernau et al., 2015 |
| IER3IP1 | Function unclear | Yiu et al., 2004 |
| SLC16A2 | Transporter of thyroid hormones | Wrutniak-Cabello et al., 2001 |
| CHRNE | Acetylcholine receptor subunit | Witzemann et al., 1996 |
| IARS | Isoleucyl-tRNA synthetase | Kopajtich et al., 2016 |
| BICD2, HPS1(multi-genic) | dynein-mediated transport, forms lysosomal complex | Martina et al., 2003; Neveling et al., 2013b |
Disease causing nuclear genes, identified in patients with a mitochondrial disorder (group 1), clustered according to their function in mitochondrial metabolism. *ACY1 and ANTXR2 were excluded.