. 2016 Mar 16;36(2):e00313. doi: 10.1042/BSR20150295

Table 1. Genes with pathogenic mutations resulting in OXPHOS disorders.

	Complex subunits	Proteins for import/processing or assembly	mtDNA expression or replication	Nucleotide transport or synthesis	Membrane composition
Complex I	MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, NDUFA1, NDUFA2, NDUFA4, NDUFA8, NDUFA9, NDUFA10, NDUFA11, NDUFA12, NDUFB3, NDUFB8, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3	ACAD9, FOXRED1, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NUBPL	AARS2, AGK, C10orf2, C12orf65, DARS2, EARS2, FARS2, GFM1, GFM2, LRPPRC, MPV17, MRPL3, MRPS16, MRPS22, MT01, MTFMT, MTPAP, MTTL1, MTTW, POLG, POLG2, RARS2, RMND1, SARS2, TACO1, TRMU, TSFM, TUFM, YARS2	DGUOK, POS1, RRM2B, SLC25A4, SLC25A3, SUCLA2, SUCLG1, TK2, TYMP	CABC1, COQ2, COQ6, COQ9, CYCS, DNM1L, MPC1 MFN2, NMT, OPA1, PDSS1, PDSS2, SERAC1, TAZ
Complex II	SDHA, SDHB, SDHC, SDHD	SDHAF1, SDHAF2
Complex III	CYC1,MT-CYB, UQCRB, UQCRQ, UQCRC2	BCS1L, HCCS, LYRM7, TTC19, UQCC2, UQCC3
Complex IV	COX4I2, COX6B1, COX7B, MT-CO1, MT-CO2, MT-CO3	APOPT1, COA5, COA6, COX10, COX14, COX15, COX20, ETHE1, FASTKD2, PET100, SCO1, SCO2, SURF1
Complex V	ATP5E, MT-ATP6, MT-ATP8	ATPAF2, TMEM70
Multiple complexes		ABCB7, AFG3L2, BOLA3, DNAJC19, FXN, GFER, GLRX5, HSPD1, ISCU, LYRM4, NFU1, SPG7, TIMM8A