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Sulaiman et al. J Transl Genet Genom 2020;4:159-87 I https://doi.org/10.20517/jtgg.2020.27 Page 165

NDUFAF5 (C20orf7) 612360 Assembly 20p12.1 AR LS
NDUFAF6 612392 Assembly 8q22.1 AR LS
NDUFB3 603839 HP fraction 2q31.3 AR Fatal infantile lactic acidosis
NDUFB9 601445 HP fraction 8q24.13 AR Hypotonia, lactic acidosis
NDUFB10 603843 HP fraction 16p13.3 AR Lactic acidosis, cardiomyopathy
NDUFB11 300403 HP fraction Xp11.3 X-linked Intrauterine growth restriction, lactic
acidosis
NDUFS1 157655 IP fraction 2q33-q34 AR LS
NDUFS2 602985 IP fraction 1q23 AR Encephalopathy, cardiomyopathy
NDUFS3 603846 IP fraction 11p11.11 AR LS
NDUFS4 602694 IP fraction 5q11.1 AR LS
NDUFS6 603848 IP fraction 5pter-p15.33 AR Fatal infantile lactic acidosis
NDUFS7 601825 HP fraction 19p13.3 AR LS
NDUFS8 602141 HP fraction 11q13 AR LS
NDUFV1 161015 FP fraction 11q13 AR LS
NDUFV2 600532 FP fraction 18p11 AR Cardiomyopathy, hypotonia,
encephalopathy
Complex II SDH-A 600857 FP subunit 5p15 AR LS
SDH-B 185470 IP subunit 1p36.1-p35 AD Phaeochromocytoma and paraganglioma
SDH-C 602413 Membrane subunit 1q21 AD Autosomal dominant paraganglioma type
3
SDH-D 602690 Membrane subunit 11q23 AD Autosomal dominant paraganglioma type
1, pheochromocytoma
SDHAF1 612848 Assembly 19q12-q13.2 AR Leukoencephalopathy
SDHAF2 613019 Assembly 11q12.2 AD Autosomal dominant paraganglioma type
2
Complex III BCS1L 603647 Assembly 2q33 AR Encephalopathy, hepatic failure and
tubulopathy, LS, GRACILE syndrome,
Bjornstad syndrome
UQCC2 614461 Assembly 6p21.31 AR Lactic acidosis and renal tubular dysfunction
UQCC3 616097 Assembly 11q12.3 AR Lactic acidosis, hypoglycemia, hypotonia
UQCRB 191330 Electron transfer 8q22 AR Hypoglycemia, lactic acidosis
UQCRQ 612080 Electron transfer 5q31.1 AR Severe neurological phenotype
Complex IV COA3 614775 Assembly 17q21.2 AR Neuropathy, exercise intolerance
COA5 613920 Assembly 2q11.2 AR Cardioencephalomyopathy
COA6 614772 Assembly 1q42.2 AR Cardioencephalomyopathy
COX10 602125 Heme A 17p12-p11.2 AR Neonatal tubulopathy and encephalopathy,
farnesyltransferase LS, cardiomyopathy
COX14 (C12orf62) 614478 COX assembly 12q13.12 AR Neonatal lactic acidosis
COX15 603646 Heme A synthesis 10q24 AR Early-onset hypertrophic cardiomyopathy,
LS
COX20 614698 Assembly 1q44 AR Ataxia, muscle hypotonia
COX6A1 602072 Cytochrome oxidase 12q24.31 AR Charcot-Marie-Tooth disease
activity
COX6B1 124089 Cytochrome oxidase 19q13.1 AR Encephalomyopathy
activity and assembly
COX7B 300885 Cytochrome oxidase Xq21.1 X-linked Microphthalmia with linear skin lesions
activity
COX8A 123870 Cytochrome oxidase 11q13.1 AR LS
activity
FASTKD2 612322 Role in apoptosis 2q33.3 AR Encephalomyopathy
LRPPRC 220111 Assembly 2p21-p16 AR French-Canadian LS
607544
SCO1 603644 Copper transport 17p13-p12 AR Neonatal hepatic failure and encephalopathy
SCO2 604272 Copper transport 22q13 AR Neonatal cardioencephalomyopathy
SURF1 185620 Assembly 9q34 AR LS
TACO1 612958 Translational activator 17q22-q24.2 AR LS
of COX1
Complex V ATP5E 606153 ATPase activity 20q13.3 AR Lactic acidosis, mental retardation,
peripheral neuropathy
ATP5A1 164360 ATPase activity 18q21.1 AR Neonatal encephalopathy
ATP8A2 605870 ATPase activity 13q12.13 AR Cerebellar ataxia, mental retardation
ATPAF2 608918 Assembly 17p11.2 AR Early-onset encephalopathy, lactic acidosis
TMEM70 604273 Assembly 8q21.11 AR Neonatal encephalopathy, cardiomyopathy
612418