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 (14.37, 16.63)
Charcot-Marie-Tooth disease, X-linked 4 (Cowchock syndrome) - COWCK (14.37, 16.63)
Charcot-Marie-Tooth disease with deafness and mental retardation - NAMSD (14.37, 16.63)
Combined Oxidative phosphorylation Deficiency 6 - COXPD6 (14.37, 16.63)
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
ATP13A2
ATPase, type 13A2(M)



1q36.13
Spastic paraplegia 78, autosomal recessive - SPG78 (15.66)
8
C12orf65
Chomosome 12 open reading frame 65(M)



12q24.31
Spastic paraplegia 55, autosomal recessive - SPG55 (15.54)
9
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)
10
CASQ1
Calsequestrin 1 (fast-twitch, skeletal muscle)(M)



1q21
Vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggegates - (5.33)
11
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, 12.72, 16.61)
late-onset spinal motor neuronopathy, Jokela type - SMAJ (12.36, 12.72, 16.61)
12
COQ2
Coenzyme Q2(M)



4q21.23
Coenzyme Q10 deficiency 1 - COQ10D1 (16.71)
13
COQ4
Coenzyme Q4(M)



9q34.11
Coenzyme Q10 deficiency 7 - COQ10D7 (16.75)
14
COQ6
Coenzyme Q6(M)



14q24.3
Coenzyme Q10 deficiency 6 - COQ10D6 (16.74)
15
COQ7
Coenzyme Q7(M)



16p12.3
Coenzyme Q10 deficiency 8 - COQ10D8 (16.76)
16
COQ9
Coenzyme Q9(M)



16q21
Coenzyme Q10 deficiency 5 - COQ10D5 (16.73)
17
COX15
COX15 homolog, cytochrome c oxidase assembly protein (yeast)(M)



10q24
Hypertrophic cardiomyopathy, early-onset fatal related to COX15 - (10.36)
18
COX6A1
Cytochrome c oxidase subunit VIa polypeptide 1(M)



12q24.31
CMT recessive intermediate D - CMTRID (14.81)
19
COX6A2
Cytochrome c-oxidase, subunit 6A2(M)



16p11.2
Mitochondrial complex IV deficiency - (16.66)
20
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)
21
DGUOK
Deoxyguanosine kinase(M)



2p13.1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 4 - PEOB4 (16.41, 16.45)
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) - MTDPS3 (16.41, 16.45)
22
DNA2
DNA replication helicase 2(M)



10q21.3
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 - PEOA6 (16.37)
23
ETFA
Electron-transfer-flavoprotein, alpha polypeptide(M)



15q23-q25
Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIA) - GAIIA (9.21)
24
ETFB
Electron-transfer-flavoprotein, beta polypeptide(M)



19q13.3-q13.4
Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIB) - GAIIB (9.22)
25
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)
26
FARS2
Phenylalanine-tRNA synthetase 2(M)



6p25.1
Spastic paraplegia 77, autosomal recessive - SPG77 (15.65)
27
FDX2
Ferredoxin(M)



19p13.2
Sensory motor axonal neuropathy and myopathy - (16.77)
28
FLAD1
flavin adenine dinucleotide synthetase, homolog(M)



1q21.3
Lipid storage myopathy due to Flavin Adenine Dinucleotide Synthetase Deficiency - LSMFLAD (9.30)
29
FXN
Frataxin(M)



9q13-q21.1
Friedreich ataxia - FRDA (13.51)
Friedreich ataxia with retained reflexes - FARR (13.51)
30
HK1
Hexokinase 1(M)



10q22.1
Charcot-Marie-Tooth neuropathy Type 4G - CMT4G (14.29)
31
HSPD1
Heat shock 60kDa protein 1 (chaperonin)(M)



2q33.1
Spastic paraplegia 13 - SPG13 (15.8)
32
IBA57
IBA57 homolog, iron-sulfur cluster assembly (M)



1q42.13
Spastic paraplegia 74, autosomal recessive - SPG74 (15.62)
33
ISCU
Iron-sulfur cluster scaffold homolog (E. coli)(M)



12q24.1
myopathy with exercise intolerance, swedish type - (5.29)
myopathy with deficiency of succinate dehydrogenase and aconitase - (5.29)
myopathy with lactic acidosis, hereditary - HML (5.29)
34
KIF1B
Kinesin family member 1B(M)



1p36.2
Charcot-Marie-Tooth disease, type 2A1 - CMT2A1 (14.44)
35
MARS2
Methionyl-tRNA synthetase 2, mitochondrial(M)



2q33-34
autosomal recessive spastic ataxia with leukoencephalopathy - ARSAL (15.78)
36
MFN2
Mitofusin 2(M)



1p36.22
Hereditary motor and sensory neuropathy 2A - CMT2A2A (14.45, 14.68, 14.72)
Charcot-Marie-Tooth disease, axonal, type 2A2B - CMT2A2B (14.45, 14.68, 14.72)
Hereditary motor and sensory neuropathy, type VIA with optic atrophy - HMSN6A (14.45, 14.68, 14.72)
37
MGME1
Mitochondrial genome maintenance exonuclease 1(M)



20p11.23
Mitochondrial DNA depletion syndrome 11 - MTDPS11 (16.52)
38
MPV17
MpV17 mitochondrial inner membrane protein(M)



2p23.3
Charcot-Marie-Tooth disease, axonal, type 2EE - CMT2EE (14.75)
39
MRPL3
Mitochondrial ribosomal protein L3(M)



3q21-q23
Hypertrophic mitochondrial cardiomyopathy related to MRPL3 - (10.32)
40
MRPL44
Mitochondrial ribosomal protein L44(M)



2q36.1
Mitochondrial hypertrophic cardiomyopathy related to MRPL44 - COXPD16 (10.34)
41
MRPS25
Mitochondrial ribosomal protein S25(M)



3p25.1
Dyskinetic cerebral palsy, partial agenesis of the corpus callosum and mitochondrial myopathy - (16.68)
42
MSTO1
Misato homolog 1 (Drosophila)(M)



1q22
Myopathy, mitochondrial and cerebellar ataxia - MMYAT (2.49, 13.93, 16.69)
43
MTO1
Mitochondrial tRNA translation optimization 1(M)



6q13
Mitochondrial hypertrophic cardiomyopathy related to MTO1 - COXPD10 (10.33)
44
MTPAP
Mitochondrial poly(A) polymerase(M)



10p12.1
Spastic ataxia 4 autosomal recessive - SPAX4 (15.79)
45
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)
46
OPA1
optic atrophy 1(M)



3q28-q29
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) - MTDPS14 (16.56, 16.58)
Progressive external ophthalmoplegia with optic atrophy, optic atrophy 1 with deafness - (16.56, 16.58)
47
PDK3
Pyruvate dehydrogenase kinase, isoenzyme 3(M)



Xp22.11
Charcot-Marie-Tooth neuropathy X-linked 6 - (14.39)
48
PNPLA8
Patatin-like phospholipase domain containing 8(M)



7q31.1
Infantile neuroaxonal dystrophy and neutral lipid storage disease with myopathy - MMLA (9.29)
49
POLG
Polymerase (DNA directed), gamma(M)



15q25
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis - SANDO (13.85, 16.32, 16.38, 16.46, 16.47)
spinocerebellar ataxia with epilepsy, included - SCAE (13.85, 16.32, 16.38, 16.46, 16.47)
Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal - PEOA1 (13.85, 16.32, 16.38, 16.46, 16.47)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 - PEOB1 (13.85, 16.32, 16.38, 16.46, 16.47)
Mitochondrial DNA depletion syndrome 4B (MNGIE type) - MTDPS4B (13.85, 16.32, 16.38, 16.46, 16.47)
Mitochondrial DNA depletion syndrome 4A (Alpers type) - MTDPS4A (13.85, 16.32, 16.38, 16.46, 16.47)
50
POLG2
Mitochondrial DNA polymerase, accessory subunit(M)



17q24.1
progressive external ophthalmoplegia, autosomal dominant, 4 - PEOA4 (16.35)
51
PTRF
Polymerase I and transcript release factor(M)



17q21-q23
lipodystrophy, congenital generalized, type 4 - CGL4 (1.12)
52
PUS1
Pseudouridylate synthase 1(M)



12q24.33
Mitochondrial myopathy and sideroblastic anemia 1 - MLASA1 (16.59)
53
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)
54
RNASEH1
Ribonuclease H1(M)



2p25.3
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 2 - PEOB2 (16.39)
55
RRM2B
Ribonucleotide reductase M2 B (TP53 inducible)(M)



8q23.1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA5 (16.36, 16.49, 16.50)
Mitochondrial DNA depletion syndrome 8A (Encephalomyopathic type with renal tubulopathy) - MTDP8A (16.36, 16.49, 16.50)
56
SCO2
Cytochrome c oxidase assembly protein(M)



22q13.33
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 - CEMCOX1 (10.35, 14.88)
Charcot-Marie-Tooth disease, axonal, related to SCO2 - (10.35, 14.88)
57
SDHA
Succinate dehydrogenase complex, subunit A, flavoprotein (Fp)(M)



5p15
Recessive neonatal isolated DC - (10.68)
Cardiomyopathy, dilated, 1GG - CMD1GG (10.68)
58
SLC25A20
Carnitine-acylcarnitine translocase(M)



3p21.31
Carnitine-acylcarnitine translocase deficiency - CACT (9.20)
59
SLC25A4
Mitochondrial carrier; adenine nucleotide translocator(M)



4q35
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA2 (16.33, 16.53, 16.54)
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) - MTDPS12A (16.33, 16.53, 16.54)
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) - MTDPS12B (16.33, 16.53, 16.54)
60
SLC25A42
Solute carrier family 25 member 42(M)



19p13.11
Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression - MECREN (16.57)
Mitochondrial myopathy - (16.57)
61
SPG7
Paraplegin(M)



16q24.3
Spastic paraplegia 7 - SPG7 (15.24)
62
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 (16.48)
63
SUCLG1
Succinate-CoA ligase, alpha subunit(M)



2p11.2
Mitochondrial DNA depletion syndrome 9 (Encephalomyopathic type withmethylmalonic aciduria) - MTDPS9 (16.51)
64
SURF1
Surfeit 1(M)



9q34.2
Charcot-Marie-Tooth neuropathy Type 4K - CMT4K (14.32)
65
TIMM22
Translocase of inner mitochondrial membrane 22(M)



17q13.3
Early onset of mitochondrial myopathy - (16.70)
66
TK2
Thymidine kinase 2, mitochondrial(M)



16q22-q23
Mitochondrial dna depletion syndrome, myopathic form - MTDPS3 (13.28, 16.40, 16.44)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 3 - PEOB3 (13.28, 16.40, 16.44)
67
TSFM
Ts translation elongation factor, mitochondrial(M)



12q14.1
Mitochondrial hypertrophic cardiomyopathy related to TSFM - COXPD3 (10.30)
68
YARS2
Tyrosyl-tRNA synthetase 2, mitochondrial(M)



12p11.21
Myopathy, lactic acidosis, and sideroblastic anemia-2 - MLASA2 (16.60)