Stock Center logo
Genes involved in mitochondrial complex deficiency diseases
There are a variety of conditions that can be caused by mitochondrial complex deficiencies, including Leigh syndrome, diabetes mellitus and deafness, neuropathies, cardiomyopathies and encephalopathies. Mutations causing mitochondrial-related disorders can be found in both nuclear- and mitochondrial-encoded genes.

General Information links for mitochondrial complex deficiency disorders:
Mitochondrial Disorders Overview from GeneReviews at NCBI
Mitochondrial conditions at NIH's Genetics Home Reference
Leigh syndrome overview at NIH's Genetics Home Reference
Mitochondrial disease list at the United Mitochondrial Disease Foundation site.

The two tables below show genes implicated in mitochondrial-based disease (ordered by complex) and stocks available from the BDSC (in alphabetical order by gene).
Genes involved in mitochondrial function that have been implicated in disease
Complex/function Human gene symbol Human gene name Fly gene
Complex I ACAD9 acyl-CoA dehydrogenase family, member 9 ?
Complex I FOXRED1 FAD-dependent oxidoreductase domain containing 1 l(2)37Bb
Complex I FOXRED1 FAD-dependent oxidoreductase domain containing 1 CG3270
Complex I NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa CG34439
Complex I NDUFA10 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa ND42 (NADH:ubiquinone reductase 42kD subunit precursor)
Complex I NDUFA11 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa CG9350
Complex I NDUFA12 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12 CG3214
Complex I NDUFA2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa CG15434
Complex I NDUFA9 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa CG6020
Complex I NDUFAF1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 1 CG7598
Complex I NDUFAF2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 ?
Complex I NDUFAF3 NADH dehydrogenase (ubiquinone) complex I, assembly factor 3 CG5569
Complex I NDUFAF4 NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 CG11722
Complex I NDUFAF5 NADH dehydrogenase (ubiquinone) complex I, assembly factor 5 CG8067
Complex I NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 CG15738
Complex I NDUFB3 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa CG10320
Complex I NDUFS1 NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) ND75 (NADH:ubiquinone reductase 75kD subunit precursor)
Complex I NDUFS2 NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) CG1970
Complex I NDUFS3 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) CG12079
Complex I NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase) CG12203
Complex I NDUFS6 NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase) CG8680
Complex I NDUFS7 NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) CG9172
Complex I NDUFS7 NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) CG2014
Complex I NDUFS8 NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) ND23 (NADH:ubiquinone reductase 23kD subunit precursor)
Complex I NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa CG9140
Complex I NDUFV2 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa CG5703
Complex I NUBPL nucleotide binding protein-like CG3262
Complex I MT-ND1 mitochondrially encoded NADH dehydrogenase 1 mt:ND1 (mitochondrial NADH-ubiquinone oxidoreductase chain 1)
Complex I MT-ND2 mitochondrially encoded NADH dehydrogenase 2 mt:ND2 (mitochondrial NADH-ubiquinone oxidoreductase chain 2)
Complex I MT-ND3 mitochondrially encoded NADH dehydrogenase 3 mt:ND3 (mitochondrial NADH-ubiquinone oxidoreductase chain 3)
Complex I MT-ND4 mitochondrially encoded NADH dehydrogenase 4 mt:ND4 (mitochondrial NADH-ubiquinone oxidoreductase chain 4)
Complex I MT-ND5 mitochondrially encoded NADH dehydrogenase 5 mt:ND5 (mitochondrial NADH-ubiquinone oxidoreductase chain 5)
Complex I MT-ND6 mitochondrially encoded NADH dehydrogenase 6 mt:ND6? (mitochondrial NADH-ubiquinone oxidoreductase chain 6)
Complex II SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp) Sdha (Succinate dehydrogenase A)
Complex II SDHAF1 succinate dehydrogenase complex assembly factor 1 ?
Complex III BCS1L BCS1-like (S. cerevisiae) CG4908
Complex III TTC19 tetratricopeptide repeat domain 19 Ttc19 (Tetratricopeptide repeat domain 19)
Complex IV COA5 cytochrome C oxidase assembly factor 5 CG13018
Complex IV COX10 COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast) CG5037
Complex IV COX14 COX14 cytochrome c oxidase assembly homolog (S. cerevisiae) CG17776?
Complex IV COX15 COX15 homolog, cytochrome c oxidase assembly protein (yeast) CG3803
Complex IV COX6B1 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) CoVIb (Cytochrome c oxidase subunit VIb)
Complex IV FASTKD2 FAST kinase domains 2 ?
Complex IV LRPPRC leucine-rich pentatricopeptide repeat containing bsf (bicoid stability factor)
Complex IV SCO1 SCO cytochrome oxidase deficient homolog 1 (yeast) Scox (Synthesis of cytochrome c oxidase)
Complex IV SCO2 SCO cytochrome oxidase deficient homolog 2 (yeast) Scox (Synthesis of cytochrome c oxidase)
Complex IV SURF1 surfeit 1 Surf1 (Surfeit 1)
Complex IV TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I CG4957
Complex IV MTCO1 mitochondrially encoded cytochrome c oxidase I mt:CoI (mitochondrial Cytochrome c oxidase subunit I)
Complex IV MTCO2 mitochondrially encoded cytochrome c oxidase II mt:CoII (mitochondrial Cytochrome c oxidase subunit II)
Complex IV MTCO3 mitochondrially encoded cytochrome c oxidase III mt:CoIII (mitochondrial Cytochrome c oxidase subunit III)
Complex V ATP5E ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit sun (stunted)
Complex V ATP5E ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit CG31477
Complex V ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 l(2)k14505
Complex V TMEM70 transmembrane protein 70 CG7506
Complex V MT-ATP6 mitochondrially encoded ATP synthase 6 mt:ATPase6 (mitochondrial ATPase subunit 6)
Complex V MT-ATP8 mitochondrially encoded ATP synthase 8 mt:ATPase8? (mitochondrial ATPase subunit 8)
pyruvate dehydrogenase complex DLD dihydrolipoamide dehydrogenase CG7430
pyruvate dehydrogenase complex PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1 l(1)G0334
tRNA MT-TK mitochondrially encoded tRNA lysine mt:tRNA:K (mitochondrial lysine tRNA)
tRNA MT-TL1 mitochondrially encoded tRNA leucine 1 (UUA/G) mt:tRNA:L:UUR (mitochondrial leucine UUR tRNA)
tRNA MT-TL2 mitochondrially encoded tRNA leucine 2 (CUN) mt:tRNA:L:CUN (mitochondrial leucine CUN tRNA)
tRNA MT-TS1 mitochondrially encoded tRNA serine 1 (UCN) mt:tRNA:S:UCN (mitochondrial serine UCN tRNA)
tRNA MT-TS2 mitochondrially encoded tRNA serine 2 (AGU/C) mt:tRNA:S:AGY (mitochondrial serine AGY tRNA)
tRNA MT-TV mitochondrially encoded tRNA valine mt:tRNA:V (mitochondrial valine tRNA)
tRNA MT-TW mitochondrially encoded tRNA tryptophan mt:tRNA:W (mitochondrial tryptophan tRNA)

Relevant gene in stock Fly disease model or related mutation or transgene Stk # Comments
     Stocks for nuclear-encoded mitochondrial genes
asp P{UAS-asp.GFP}attP2 65859 Expresses asp protein with a C-terminal GFP tag under UASp control.
bsf P{lacW}bsf[SH1181] 29492 This P{lacW} is inserted in a coding exon. It is uncharacterized but is an unverified lethal suggesting it may disrupt function.
bsf Mi{MIC}bsf[MI10057] 53452 This Mi{MIC} insertion in coding sequence is uncharacterized but is an unverified lethal suggesting it may disrupt function.
bsf P{TRiP.JF01562}attP2 31097 Expresses dsRNA for RNAi of bsf under UAS control.
bsf P{TRiP.JF01529}attP2 31078 Expresses dsRNA for RNAi of bsf under UAS control.
bsf P{TRiP.HMS01022}attP2 34550 Expresses dsRNA for RNAi of bsf under UAS control.
bsf PBac{UAS-bsf.J}VK00033 67172 Expresses bsf under UAS control.
CG11722 P{TRiP.HMC03660}attP40 52920 Expresses dsRNA for RNAi of CG11722 (FBgn0037777) under UAS control.
CG11722 P{TRiP.HM05053}attP2 28567 Expresses dsRNA for RNAi of CG11722 (FBgn0037777) under UAS control.
CG13018 PBac{RB}CG13018[e00535] 17863 This is a PBac{PB} insertion upstream of the transcription unit. It is uncharacterized but is an unverified lethal suggesting it may disrupt function.
CG13018 P{TRiP.HMJ22006}attP40 58091 Expresses dsRNA for RNAi of CG13018 (FBgn0040751) under UAS control.
CG3270 P{TRiP.JF01630}attP2 31153 Expresses dsRNA for RNAi of CG3270 under UAS control.
CG3270 P{TRiP.JF01537}attP2 31085 Expresses dsRNA for RNAi of CG3270 under UAS control.
CG3270 P{TRiP.HMC03625}attP40 52887 Expresses dsRNA for RNAi of CG3270 (FBgn0033093) under UAS control.
CG3803 PBac{WH}CG3803[f04773] 18804 This PBac{WH} insertion into the noncoding portion of the first exon is uncharacterized but is an unverified lethal (suggesting it may disrupt function).
CG3803 P{TRiP.JF01524}attP2 31073 Expresses dsRNA for RNAi of CG3803 under UAS control.
CG3803 P{TRiP.JF01523}attP2 31072 Expresses dsRNA for RNAi of CG3803 under UAS control.
CG3803 P{TRiP.HMS02641}attP40 42948 Expresses dsRNA for RNAi of CG3803 (FBgn0034938) under UAS control.
CG3803 P{TRiP.HMS01473}attP2 35731 Expresses dsRNA for RNAi of CG3803 (FBgn0034938) under UAS control.
CG4908 P{TRiP.JF01526}attP2 31075 Expresses dsRNA for RNAi of CG4908 under UAS control.
CG4908 P{TRiP.JF01525}attP2 31074 Expresses dsRNA for RNAi of CG4908 under UAS control.
CG4908 P{TRiP.HMC03437}attP40 51863 Expresses dsRNA for RNAi of CG4908 (FBgn0032195) under UAS control.
CG5037 P{TRiP.JF01671}attP2 31169 Expresses dsRNA for RNAi of CG5037 under UAS control.
CG5037 P{TRiP.JF01522}attP2 31071 Expresses dsRNA for RNAi of CG5037 under UAS control.
CG5037 P{TRiP.HMC03438}attP40 51864 Expresses dsRNA for RNAi of CG5037 (FBgn0032222) under UAS control.
CG7430 P{EP}CG7430[EP3698] 17275 This P{EP} insertion in the non-coding first exon is uncharacterized but is an unverified lethal (suggesting it may disrupt function).
CG8067 P{TRiP.JF01749}attP2 31240 Expresses dsRNA for RNAi of CG8067 (FBgn0033891) under UAS control.
CG8067 P{TRiP.JF01567}attP2 31102 Expresses dsRNA for RNAi of CG8067 (FBgn0033891) under UAS control.
CG8067 P{TRiP.HMC03453}attP40 51879 Expresses dsRNA for RNAi of CG8067 (FBgn0033891) under UAS control.
CIA30 P{EPgy2}CIA30[EY09101] 16925 This is a P{EPgy2} insertion into a non-coding exon. It is uncharacterized but is an unverified lethal suggesting it may disrupt function.
CIA30 P{TRiP.HMC03815}attP40 55660 Expresses dsRNA for RNAi of CG7598 (FBgn0039689) under UAS control.
COX6B P{EP}COX6B[G11337] 26630 This P{EP} is inserted in the 5' non-coding exon of COX6B and CG18809. It is uncharacterized but is an unverified lethal suggesting it may disrupt function of either or both genes.
l(2)37Bb l(2)37Bb[2] 3579 EMS-induced mutation in l(2)37Bb.
l(2)37Bb P{TRiP.HMS02443}attP40 42608 Expresses dsRNA for RNAi of l(2)37Bb (FBgn0002021) under UAS control.
l(2)k14505 P{lacW}l(2)k14505[k14505] 11127 This is a P{lacW} insertion into a non-coding exon. It is uncharacterized but is an unverified lethal suggesting it may disrupt function.
l(2)k14505 P{EPgy2}l(2)k14505[EY04514] 19694 This is a P{EPgy2} insertion into a coding exon. It is uncharacterized but is an unverified lethal suggesting it may disrupt function.
l(2)k14505 P{TRiP.HMC03581}attP40 53352 Expresses dsRNA for RNAi of l(2)k14505 (FBgn0021856) under UAS control.
ND-13A P{TRiP.HMC03434}attP40 51860 Expresses dsRNA for RNAi of CG8680 (FBgn0031684) under UAS control.
ND-13A P{TRiP.HM05062}attP2 28576 Expresses dsRNA for RNAi of CG8680 (FBgn0031684) under UAS control.
ND-23 P{EP}ND-23[G14097] 30201 This insertion of P{EP} in the first exon is uncharacterized but is an unverified lethal (suggesting it may disrupt function).
ND-23 P{TRiP.HMC03353}attP40 51797 Expresses dsRNA for RNAi of ND-23 (FBgn0017567) under UAS control.
ND-23 P{TRiP.HM05229}attP2 30487 Expresses dsRNA for RNAi of ND-23 under UAS control.
ND-42 P{EP}ND-42[G4500] 30085 This is a P{EP} insertion into non-coding sequence. It is uncharacterized but is an unverified lethal suggesting it may disrupt function.
ND-42 P{TRiP.HMS00852}attP2 34526 Expresses dsRNA for RNAi of ND-42 (FBgn0019957) under UAS control.
ND-42 P{TRiP.HMS00798}attP2 32998 Expresses dsRNA for RNAi of ND-42 (FBgn0019957) under UAS control.
ND-42 P{TRiP.HM05104}attP2 28894 Expresses dsRNA for RNAi of ND-42 (FBgn0019957) under UAS control.
ND-49 P{TRiP.HMC04814}attP40 57499 Expresses dsRNA for RNAi of ND-49 (FBgn0039909) under UAS control.
ND-49 P{TRiP.HM05059}attP2 28573 Expresses dsRNA for RNAi of ND-49 (FBgn0039909) under UAS control.
ND-51 P{SUPor-P}ND-51[KG01287] 14362 This insertion of P{SUPor-P} into coding region in the first exon is largely uncharacterized (eye clones are rough - see www.bruinfly.ucla.edu) but is an unverified lethal (suggesting it may disrupt function)
ND-51 P{TRiP.HMS01590}attP2 36701 Expresses dsRNA for RNAi of ND-51 under UAS control.
ND-51 P{TRiP.HMJ21591}attP40 52939 Expresses dsRNA for RNAi of ND-51 under UAS control.
ND-51 P{TRiP.HM05213}attP2 29534 Expresses dsRNA for RNAi of ND-51 under UAS control.
ND-75 P{TRiP.JF02791}attP2 27739 Expresses dsRNA for RNAi of ND-75 under UAS control.
ND-75 P{TRiP.HMS00854}attP2 33911 Expresses dsRNA for RNAi of ND-75 under UAS control.
ND-75 P{TRiP.HMS00853}attP2 33910 Expresses dsRNA for RNAi of ND-75 under UAS control.
ND-B12 P{EPgy2}ND-B12[EY06181] 16703 This is a P{EPgy2} insertion into coding sequence. It is uncharacterized but is an unverified lethal suggesting it may disrupt function.
ND-B12 P{TRiP.HMJ23156}attP40 61321 Expresses dsRNA for RNAi of ND-B12 (FBgn0034645) under UAS control.
ND-B17.2 P{EP}ND-B17.2[G8213] 33276 This is a P{EP} insertion into coding sequence. It is uncharacterized but is an unverified lethal suggesting it may disrupt function.
ND-B17.2 P{TRiP.HMS01584}attP2 36695 Expresses dsRNA for RNAi of CG3214 (FBgn0031436) under UAS control.
ND-MWFE PBac{PB}ND-MWFE[c00093] 10008 This is a PBac{PB} insertion into an intron. It is uncharacterized but is an unverified lethal suggesting it may disrupt function.
ND-MWFE ND-MWFE[k14301] 11122 This is a P{lacW} insertion into a non-coding exon of CG34439 and an intron of TppII. It is uncharacterized but is an unverified lethal suggesting it may disrupt function of one or both genes.
Scox P{lacW}Scox[SH1783] 29505 Lethal insertion of P{lacW} into the coding region of the first exon. Lethality is rescued by Scox expression.
Scox P{EPgy2}Scox[EY05333] 16652 Lethal insertion of P{EPgy2} into the non-coding region of the first exon. Lethality is rescued by Scox expression.
Scox P{TRiP.HMC03860}attP40 55179 Expresses dsRNA for RNAi of Scox (FBgn0262467) under UAS control.
Sdha SdhA[5] 1563 EMS-induced loss of function allele (amino acid change G533D)
Sdha SdhA[1110] 51659 SdhA loss of function allele caused by an E288K change.
Sdha P{EPg}SdhA[HP21216] 22087 This P{EPg} insertion in the first exon or intron (depending on the transcript) is uncharacterized but is an unverified lethal (suggesting it may disrupt function).
Sdha P{GSV1}SdhA[s-153.1] 43481 This P{GSV1} insertion just upstream of the transcription start could overexpress SdhA in the presence of GAL4.
sicily sicily[E] 52394 A lethal allele caused by aa change Q133@.
sicily sicily[C] 52393 A lethal allele caused by a deletion removing the promoter and first two exons.
sicily P{EPgy2}sicily[EY02706] 15877 This is a P{EPgy2} insertion into coding sequence. It is uncharacterized but is an unverified lethal suggesting it may disrupt function.
sicily P{TRiP.HMC04019}attP40 55332 Expresses dsRNA for RNAi of sicily (FBgn0030352) under UAS control.
sicily PBac{UAS-sicily.Z}VK00033 67141 Expresses sicily under UAS control.
sun P{EP}sun[G2065] 26626 This P{EP} insertion in the non-coding first exon is uncharacterized but is an unverified lethal (suggesting it may disrupt function).
Surf1 P{TRiP.JF01729}attP2 31210 Expresses dsRNA for RNAi of Surf1 under UAS control.
Surf1 P{TRiP.JF01691}attP2 31179 Expresses dsRNA for RNAi of Surf1 under UAS control.
Surf1 P{TRiP.HMC03338}attP40 51783 Expresses dsRNA for RNAi of Surf1 (FBgn0029117) under UAS control.
Ttc19 PBac{WH}Ttc19[f05160] 18843 A PBac{WH} insertion in coding sequence that exhibits bang-sensitivity, reduced motor activity, reduced lifespan and fertiliity
Ttc19 P{TRiP.HMC05832}attP40 64958 Expresses dsRNA for RNAi of Ttc19 (FBgn0032744) under UAS control.