Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols
1
AARS2
Alanyl-tRNA synthetase 2, mitochondrial(M)



6p21.1
Mitochondrial hypertrophic cardiomyopathy related to AARS2 - COXPD8 (10.31)
2
ACAD9
Acyl-CoA dehydrogenase family member 9(M)



3q21.3
ACAD9-deficient mild myopathy - (9.25)
3
ACADVL
Acyl-Coenzyme A dehydrogenase, very long chain(M)



17p13
Acyl-CoA dehydrogenase (very long chain) deficiency - VLCAD (9.24)
4
AFG3L2
AFG3 ATPase family gene 3-like 2 (S. cerevisiae) 1(M)



18p11-q11
Spinocerebellar ataxia 28 - SCA28 (13.25, 15.80)
Spastic ataxia 5 autosomal recessive - SPAX5 (13.25, 15.80)
5
AIFM1
Apoptosis-inducing factor, Mitochondria-associated 1(M)



Xq24-q26.1
Neuropathy, axonal motor-sensory, with deafness and mental retardation - NAMSD (13.100, 14.39, 16.64)
Charcot-Marie-Tooth disease, X-linked 4 (Cowchock syndrome) - COWCK (13.100, 14.39, 16.64)
Charcot-Marie-Tooth disease with deafness and mental retardation - NAMSD (13.100, 14.39, 16.64)
Combined Oxidative phosphorylation Deficiency 6 - COXPD6 (13.100, 14.39, 16.64)
Cerebellar ataxia with neuropathy, hearing loss and intellectual disability - (13.100, 14.39, 16.64)
6
ALDH18A1
Aldehyde deydrogenase 18 family, member A1 (M)



10q24.1
Spastic paraplegia 9 - SPG9A (15.5, 15.25)
Spastic paraplegia 9A, autosomal recessive - SPG9B (15.5, 15.25)
7
APOO
Apolipoprotein O(M)



Xp22.11
Mitochondrial myopathy with lactic acidosis, cognitive impairment and autistic features - (16.81)
8
ATP13A2
ATPase, type 13A2(M)



1q36.13
Spastic paraplegia 78, autosomal recessive - SPG78 (15.66)
9
C12orf65
Chomosome 12 open reading frame 65(M)



12q24.31
Spastic paraplegia 55, autosomal recessive - SPG55 (15.54)
10
C19orf12
Chromosome 19 open reading frame 12(M)



19q12
Spastic paraplegia 43, autosomal recessive - SPG43 (15.42)
Neurodegeneration with brain iron accumulation 4 - NBIA4 (15.42)
11
CASQ1
Calsequestrin 1 (fast-twitch, skeletal muscle)(M)



1q21
Vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggegates - (5.35)
12
CAVIN1
Caveolae-associated protein 1(M)



17q21-q2
lipodystrophy, congenital generalized, type 4 - CGL4 (1.13)
13
CHCHD10
Coiled-coil-helix-coiled-coil-helix domain containing 10(M)



22q11.2-q13.2
Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS2 (12.36, 12.73, 16.62)
late-onset spinal motor neuronopathy, Jokela type - SMAJ (12.36, 12.73, 16.62)
14
COQ2
Coenzyme Q2(M)



4q21.23
Coenzyme Q10 deficiency 1 - COQ10D1 (16.72)
15
COQ4
Coenzyme Q4(M)



9q34.11
Coenzyme Q10 deficiency 7 - COQ10D7 (16.76)
16
COQ5
Coenzyme Q5 Methyltransferase(M)



12q24.31
Coenzyme Q10 deficiency - COQ10D9 (13.102)
17
COQ6
Coenzyme Q6(M)



14q24.3
Coenzyme Q10 deficiency 6 - COQ10D6 (16.75)
18
COQ7
Coenzyme Q7(M)



16p12.3
Coenzyme Q10 deficiency 8 - COQ10D8 (16.77)
19
COQ9
Coenzyme Q9(M)



16q21
Coenzyme Q10 deficiency 5 - COQ10D5 (16.74)
20
COX15
COX15 homolog, cytochrome c oxidase assembly protein (yeast)(M)



10q24
Hypertrophic cardiomyopathy, early-onset fatal related to COX15 - (10.36)
21
COX6A1
Cytochrome c oxidase subunit VIa polypeptide 1(M)



12q24.31
CMT recessive intermediate D - CMTRID (14.85)
22
COX6A2
Cytochrome c-oxidase, subunit 6A2(M)



16p11.2
Mitochondrial complex IV deficiency - (16.67)
23
CPT1C
Carnitine Palmitoyltransferase 1C(M)



19q13.33
Spastic paraplegia 73, autosomal dominant - SPG73 (15.20)
24
CPT2
Carnitine palmitoyltransferase II(M)



1p32
CPT deficiency, hepatic, type II - CPT2 (9.18)
Hypoglycemia hypoketonic related to carnitine palmitoyltransferase II - CPTase (9.18)
Myopathy due to CPT II deficiency - CPT2 (9.18)
25
DGUOK
Deoxyguanosine kinase(M)



2p13.1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 4 - PEOB4 (16.42, 16.46)
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) - MTDPS3 (16.42, 16.46)
26
DHTKD1
Dehydrogenase E1 and transketolase domain containing 1(M)



10p14
Charcot-Marie-Tooth neuropathy Type 2Q - CMT2Q (14.61)
27
DNA2
DNA replication helicase 2(M)



10q21.3
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 - PEOA6 (16.38)
28
ETFA
Electron-transfer-flavoprotein, alpha polypeptide(M)



15q23-q25
Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIA) - GAIIA (9.21)
29
ETFB
Electron-transfer-flavoprotein, beta polypeptide(M)



19q13.3-q13.4
Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIB) - GAIIB (9.22)
30
ETFDH
Electron-transferring-flavoprotein dehydrogenase(M)



4q32-q35
Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIC) - GAIIC (9.23)
Multiple acyl-coa dehydrogenase deficiency - MADD (9.23)
31
FARS2
Phenylalanine-tRNA synthetase 2(M)



6p25.1
Spastic paraplegia 77, autosomal recessive - SPG77 (15.65)
32
FDX2
Ferredoxin(M)



19p13.2
Sensory motor axonal neuropathy and myopathy - (16.78)
33
FLAD1
flavin adenine dinucleotide synthetase, homolog(M)



1q21.3
Lipid storage myopathy due to Flavin Adenine Dinucleotide Synthetase Deficiency - LSMFLAD (9.30)
34
FXN
Frataxin(M)



9q13-q21.1
Friedreich ataxia - FRDA (13.53)
Friedreich ataxia with retained reflexes - FARR (13.53)
35
HK1
Hexokinase 1(M)



10q22.1
Charcot-Marie-Tooth neuropathy Type 4G - CMT4G (14.30)
36
HSPD1
Heat shock 60kDa protein 1 (chaperonin)(M)



2q33.1
Spastic paraplegia 13 - SPG13 (15.8)
37
IBA57
IBA57 homolog, iron-sulfur cluster assembly (M)



1q42.13
Spastic paraplegia 74, autosomal recessive - SPG74 (15.62)
38
ISCU
Iron-sulfur cluster scaffold homolog (E. coli)(M)



12q24.1
myopathy with exercise intolerance, swedish type - (5.31)
myopathy with deficiency of succinate dehydrogenase and aconitase - (5.31)
myopathy with lactic acidosis, hereditary - HML (5.31)
39
KIF1B
Kinesin family member 1B(M)



1p36.2
Charcot-Marie-Tooth disease, type 2A1 - CMT2A1 (14.46)
40
MARS2
Methionyl-tRNA synthetase 2, mitochondrial(M)



2q33-34
autosomal recessive spastic ataxia with leukoencephalopathy - ARSAL (15.78)
41
MFN2
Mitofusin 2(M)



1p36.22
Hereditary motor and sensory neuropathy 2A - CMT2A2A (14.47, 14.71, 14.76)
Charcot-Marie-Tooth disease, axonal, type 2A2B - CMT2A2B (14.47, 14.71, 14.76)
Hereditary motor and sensory neuropathy, type VIA with optic atrophy - HMSN6A (14.47, 14.71, 14.76)
42
MGME1
Mitochondrial genome maintenance exonuclease 1(M)



20p11.23
Mitochondrial DNA depletion syndrome 11 - MTDPS11 (16.53)
43
MPV17
MpV17 mitochondrial inner membrane protein(M)



2p23.3
Charcot-Marie-Tooth disease, axonal, type 2EE - CMT2EE (14.79)
44
MRPL3
Mitochondrial ribosomal protein L3(M)



3q21-q23
Hypertrophic mitochondrial cardiomyopathy related to MRPL3 - (10.32)
45
MRPL44
Mitochondrial ribosomal protein L44(M)



2q36.1
Mitochondrial hypertrophic cardiomyopathy related to MRPL44 - COXPD16 (10.34)
46
MRPS25
Mitochondrial ribosomal protein S25(M)



3p25.1
Dyskinetic cerebral palsy, partial agenesis of the corpus callosum and mitochondrial myopathy - (16.69)
47
MSTO1
Misato homolog 1 (Drosophila)(M)



1q22
Myopathy, mitochondrial and cerebellar ataxia - MMYAT (2.52, 13.98, 16.70)
48
MTO1
Mitochondrial tRNA translation optimization 1(M)



6q13
Mitochondrial hypertrophic cardiomyopathy related to MTO1 - COXPD10 (10.33)
49
MTPAP
Mitochondrial poly(A) polymerase(M)



10p12.1
Spastic ataxia 4 autosomal recessive - SPAX4 (15.79)
50
NDUFAF1
NADH-ubiquinone oxidoreductase 1 alpha subcomplex(M)



15q15.1
patient with HCM and isolated respiratory complex I deficiency - (10.29)
Hypertrophic mitochondrial cardiomyopathy related to NDUFAF1 - (10.29)
Mitochondrial complex 1 deficiency, nuclear type 11 - MC1DN11 (10.29)
51
OPA1
optic atrophy 1(M)



3q28-q29
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) - MTDPS14 (16.57, 16.59)
Progressive external ophthalmoplegia with optic atrophy, optic atrophy 1 with deafness - (16.57, 16.59)
52
PDK3
Pyruvate dehydrogenase kinase, isoenzyme 3(M)



Xp22.11
Charcot-Marie-Tooth neuropathy X-linked 6 - (14.41)
53
PNPLA8
Patatin-like phospholipase domain containing 8(M)



7q31.1
Infantile neuroaxonal dystrophy and neutral lipid storage disease with myopathy - MMLA (9.29)
54
POLG
Polymerase (DNA directed), gamma(M)



15q25
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis - SANDO (13.90, 16.33, 16.39, 16.47, 16.48)
spinocerebellar ataxia with epilepsy, included - SCAE (13.90, 16.33, 16.39, 16.47, 16.48)
Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal - PEOA1 (13.90, 16.33, 16.39, 16.47, 16.48)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 - PEOB1 (13.90, 16.33, 16.39, 16.47, 16.48)
Mitochondrial DNA depletion syndrome 4B (MNGIE type) - MTDPS4B (13.90, 16.33, 16.39, 16.47, 16.48)
Mitochondrial DNA depletion syndrome 4A (Alpers type) - MTDPS4A (13.90, 16.33, 16.39, 16.47, 16.48)
55
POLG2
Mitochondrial DNA polymerase, accessory subunit(M)



17q24.1
progressive external ophthalmoplegia, autosomal dominant, 4 - PEOA4 (16.36)
56
PTRH2
Peptidyl-tRNA Hydrolase 2(M)



17q23.1
Infantile-onset multisystem disease with progressive muscle weakness - IMNEPD (16.68)
57
PUS1
Pseudouridylate synthase 1(M)



12q24.33
Mitochondrial myopathy and sideroblastic anemia 1 - MLASA1 (16.60)
58
REEP1
Receptor accessory protein 1(M)



2p11.2
Distal spinal muscular atrophy, type VB - DSMAVB (12.23, 15.12)
Spastic paraplegia 31 - SPG31 (12.23, 15.12)
59
RNASEH1
Ribonuclease H1(M)



2p25.3
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 2 - PEOB2 (16.40)
60
RRM2B
Ribonucleotide reductase M2 B (TP53 inducible)(M)



8q23.1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA5 (16.37, 16.50, 16.51)
Mitochondrial DNA depletion syndrome 8A (Encephalomyopathic type with renal tubulopathy) - MTDP8A (16.37, 16.50, 16.51)
61
SCO2
Cytochrome c oxidase assembly protein(M)



22q13.33
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 - CEMCOX1 (10.35, 14.92)
Charcot-Marie-Tooth disease, axonal, related to SCO2 - (10.35, 14.92)
62
SDHA
Succinate dehydrogenase complex, subunit A, flavoprotein (Fp)(M)



5p15
Recessive neonatal isolated DC - (10.68)
Cardiomyopathy, dilated, 1GG - CMD1GG (10.68)
63
SLC25A1
Solute carrier family 25 (mitochondrial carrier, citrate transporter), member 1(M)



22q11.21
Presynaptic congenital myasthenic syndrome 23 - CMS23 (11.31)
64
SLC25A20
Carnitine-acylcarnitine translocase(M)



3p21.31
Carnitine-acylcarnitine translocase deficiency - CACT (9.20)
65
SLC25A4
Mitochondrial carrier; adenine nucleotide translocator(M)



4q35
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA2 (16.34, 16.54, 16.55)
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) - MTDPS12A (16.34, 16.54, 16.55)
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) - MTDPS12B (16.34, 16.54, 16.55)
66
SLC25A42
Solute carrier family 25 member 42(M)



19p13.11
Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression - MECREN (16.58)
Mitochondrial myopathy - (16.58)
67
SLC25A46
solute carrier family 25 member 46(M)



5q22.1
Neuropathy, hereditary motor and sensory, type VIB - HSMN6B (12.92)
68
SPG7
Paraplegin(M)



16q24.3
Spastic paraplegia 7 - SPG7 (15.24)
69
SUCLA2
Succinate-CoA ligase, ADP-forming, beta subunit(M)



13q12.2-q13.3
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) - MTDPS5 (16.49)
70
SUCLG1
Succinate-CoA ligase, alpha subunit(M)



2p11.2
Mitochondrial DNA depletion syndrome 9 (Encephalomyopathic type withmethylmalonic aciduria) - MTDPS9 (16.52)
71
SURF1
Surfeit 1(M)



9q34.2
Charcot-Marie-Tooth neuropathy Type 4K - CMT4K (14.33)
72
TIMM22
Translocase of inner mitochondrial membrane 22(M)



17q13.3
Early onset of mitochondrial myopathy - (16.71)
73
TK2
Thymidine kinase 2, mitochondrial(M)



16q22-q23
Mitochondrial dna depletion syndrome, myopathic form - MTDPS3 (13.28, 16.41, 16.45)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 3 - PEOB3 (13.28, 16.41, 16.45)
74
TMEM126B
Transmembrane protein 126B(M)



11q14.1
Mitochondrial complex I deficiency, nuclear type 29 - MC1DN29 (16.80)
75
TSFM
Ts translation elongation factor, mitochondrial(M)



12q14.1
Mitochondrial hypertrophic cardiomyopathy related to TSFM - COXPD3 (10.30)
76
VAMP1
Vesicle associated membrane protein (synaptobrevin 1)(M)



12p13
ataxia, spastic, 1, autosomal dominant - SPAX1 (11.33, 15.76)
Presynaptic congenital myasthenic syndrome 25 - CMS25 (11.33, 15.76)
77
WWOX
WW Domain-Containing Oxidoreductase(M)



16q23.1-q23.2
Spinocerebellar ataxia, autosomal recessive 12 - SCAR12 (13.67)
78
YARS2
Tyrosyl-tRNA synthetase 2, mitochondrial(M)



12p11.21
Myopathy, lactic acidosis, and sideroblastic anemia-2 - MLASA2 (16.61)