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:

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/functionHuman gene symbolHuman gene nameFly gene
ATP synthaseATP5F1Dmitochondrial ATP synthase F1 complex - delta subunitATPsyndelta
Complex IACAD9acyl-CoA dehydrogenase family, member 9
Complex IFOXRED1FAD-dependent oxidoreductase domain containing 1l(2)37Bb
Complex IFOXRED1FAD-dependent oxidoreductase domain containing 1CG3270
Complex INDUFA1NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDaND-MWFE (NADH dehydrogenase (ubiquinone) MWFE subunit)
Complex INDUFA10NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDaND-42 (NADH dehydrogenase (ubiquinone) 42kD subunit)
Complex INDUFA11NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDaND-B14.7 (NADH dehydrogenase (ubiquinone) B14.7 subunit)
Complex INDUFA12NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12ND-B17.2 (NADH dehydrogenase (ubiquinone) B17.2 subunit)
Complex INDUFA2NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDaND-B8 (NADH dehydrogenase (ubiquinone) B8 subunit)
Complex INDUFA9NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDaND-39 (NADH dehydrogenase (ubiquinone) 39kD subunit)
Complex INDUFAF1NADH dehydrogenase (ubiquinone) complex I, assembly factor 1CIA30 (Complex I intermediate-associated protein, 30 kDa)
Complex INDUFAF2NADH dehydrogenase (ubiquinone) complex I, assembly factor 2CG43346?
Complex INDUFAF3NADH dehydrogenase (ubiquinone) complex I, assembly factor 3CG5569
Complex INDUFAF4NADH dehydrogenase (ubiquinone) complex I, assembly factor 4CG11722
Complex INDUFAF5NADH dehydrogenase (ubiquinone) complex I, assembly factor 5CG8067
Complex INDUFAF6NADH dehydrogenase (ubiquinone) complex I, assembly factor 6sicily (severe impairment of CI with lengthened youth)
Complex INDUFB3NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDaND-B12 (NADH dehydrogenase (ubiquinone) B12 subunit)
Complex INDUFS1NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)ND-75 (NADH dehydrogenase (ubiquinone) 75kD subunit)
Complex INDUFS2NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)ND-49 (NADH dehydrogenase (ubiquinone) 49kD subunit)
Complex INDUFS3NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)ND-30 (NADH dehydrogenase (ubiquinone) 30kD subunit)
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Stocks for studying nuclear-encoded mitochondrial genes
Relevant gene in stockFly disease model or related mutation or transgeneStk #Comments
ATP5F1D (human)PBac{UAS-hATP5F1D.WT}VK0003380118Expresses V5-tagged human ATP5F1D under the control of UAS.
ATP5F1D (human)PBac{UAS-hATP5F1D.V106G}VK0003380120Expresses V5-tagged human ATP5F1D carrying the mitochondrial disease-associated mutation V106G under the control of UAS.
ATP5F1D (human)PBac{UAS-hATP5F1D.P82L}VK0003380119Expresses V5-tagged human ATP5F1D carrying the mitochondrial disease-associated mutation P82L under the control of UAS.
Bcs1P{TRiP.JF01526}attP231075Expresses dsRNA for RNAi of CG4908 under UAS control.
Bcs1P{TRiP.JF01525}attP231074Expresses dsRNA for RNAi of CG4908 under UAS control.
Bcs1P{TRiP.HMC03437}attP4051863Expresses dsRNA for RNAi of CG4908 (FBgn0032195) under UAS control.
Bcs1P{TOE.GS01539}attP4079450Expresses sgRNAs ubiquitously for expression of CG4908 (FBgn0032195) by a Cas9-based transcriptional activator.
bsfP{lacW}bsf[SH1181]29492This P{lacW} is inserted in a coding exon. It is uncharacterized but is an unverified lethal suggesting it may disrupt function.
bsfMi{MIC}bsf[MI10057]53452This Mi{MIC} insertion in coding sequence is uncharacterized but is an unverified lethal suggesting it may disrupt function.
bsfP{TRiP.JF01562}attP231097Expresses dsRNA for RNAi of bsf under UAS control.
bsfP{TRiP.JF01529}attP231078Expresses dsRNA for RNAi of bsf under UAS control.
bsfP{TRiP.HMS01022}attP234550Expresses dsRNA for RNAi of bsf under UAS control.
bsfPBac{UAS-bsf.J}VK0003367172Expresses bsf under UAS control.
bsfP{TOE.GS01914}attP4078661Expresses sgRNAs ubiquitously for expression of bsf (FBgn0284256) by a Cas9-based transcriptional activator.
CG13018PBac{RB}CG13018[e00535]17863This is a PBac{PB} insertion upstream of the transcription unit. It is uncharacterized but is an unverified lethal suggesting it may disrupt function.
CG13018P{TRiP.HMJ22006}attP4058091Expresses dsRNA for RNAi of CG13018 (FBgn0040751) under UAS control.
CG3270P{TRiP.JF01630}attP231153Expresses dsRNA for RNAi of CG3270 under UAS control.
CG3270P{TRiP.JF01537}attP231085Expresses dsRNA for RNAi of CG3270 under UAS control.
CG3270P{TRiP.HMC03625}attP4052887Expresses dsRNA for RNAi of CG3270 (FBgn0033093) under UAS control.
CG3270P{TKO.GS00874}attP4077082Expresses sgRNA ubiquitously for Cas9-mediated mutagenesis of CG3270 (FBgn0033093).
CG3270P{TOE.GS01439}attP4079697Expresses sgRNAs ubiquitously for expression of CG3270 (FBgn0033093) by a Cas9-based transcriptional activator.
CG3803PBac{WH}CG3803[f04773]18804This PBac{WH} insertion into the noncoding portion of the first exon is uncharacterized but is an unverified lethal (suggesting it may disrupt function).
CG3803P{TRiP.JF01524}attP231073Expresses dsRNA for RNAi of CG3803 under UAS control.
CG3803P{TRiP.JF01523}attP231072Expresses dsRNA for RNAi of CG3803 under UAS control.
CG3803P{TRiP.HMS02641}attP4042948Expresses dsRNA for RNAi of CG3803 (FBgn0034938) under UAS control.
CG3803P{TRiP.HMS01473}attP235731Expresses dsRNA for RNAi of CG3803 (FBgn0034938) under UAS control.
CG3803P{TOE.GS01394}attP4078214Expresses sgRNAs ubiquitously for expression of CG3803 (FBgn0034938) by a Cas9-based transcriptional activator.
CG8067P{TRiP.JF01749}attP231240Expresses dsRNA for RNAi of CG8067 (FBgn0033891) under UAS control.
CG8067P{TRiP.JF01567}attP231102Expresses dsRNA for RNAi of CG8067 (FBgn0033891) under UAS control.
CG8067P{TRiP.HMC03453}attP4051879Expresses dsRNA for RNAi of CG8067 (FBgn0033891) under UAS control.
CG8067P{TOE.GS01456}attP4079700Expresses sgRNAs ubiquitously for expression of CG8067 (FBgn0033891) by a Cas9-based transcriptional activator.
Cox10P{TRiP.JF01671}attP231169Expresses dsRNA for RNAi of CG5037 under UAS control.
Cox10P{TRiP.JF01522}attP231071Expresses dsRNA for RNAi of CG5037 under UAS control.
Cox10P{TRiP.HMC03438}attP4051864Expresses dsRNA for RNAi of CG5037 (FBgn0032222) under UAS control.
Cox10TI{KozakGAL4}Cox10[CR71379-KO-kG4]603164CRISPR-based insertion of a CRIMIC cassette results in expression of GAL4 under Cox10 control and deletion of some or most of the Cox10 coding sequence. GAL4 expr had not been assessed at the time of donation. Please see the flypush site for updates.
COX6BP{EP}COX6B[G11337]26630This 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.
COX6BP{TOE.GS02530}attP4079837Expresses sgRNAs ubiquitously for expression of COX6B (FBgn0031066) and CG18809 (FBgn0042132) by a Cas9-based transcriptional activator.
COX6B1 (human)PBac{UAS-hCOX6B1.HA}VK0003778111Expresses HA-tagged human COX6B1 under UAS control.
COX6B1 (human)M{UAS-hCOX6B1.HA}ZH-86Fb65756Expresses human COX6B1 under UAS control.
DldP{EP}Dld[EP3698]17275This P{EP} insertion in the non-coding first exon is uncharacterized but is an unverified lethal (suggesting it may disrupt function).
DldTI{CRIMIC.TG4.0}Dld[CR00450-TG4.0]80582CRISPR-based insertion of a CRIMIC cassette results in expression of GAL4 under CG7430 control. CG7430 is truncated and function is likely affected.
DldP{TOE.GS01598}attP4079733Expresses sgRNAs ubiquitously for expression of CG7430 (FBgn0036762) by a Cas9-based transcriptional activator.
l(2)37Bbl(2)37Bb[2]3579EMS-induced mutation in l(2)37Bb.
l(2)37BbP{TRiP.HMS02443}attP4042608Expresses dsRNA for RNAi of l(2)37Bb (FBgn0002021) under UAS control.
l(2)k14505P{lacW}l(2)k14505[k14505]11127This 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)k14505P{EPgy2}l(2)k14505[EY04514]19694This is a P{EPgy2} insertion into a coding exon. It is uncharacterized but is an unverified lethal suggesting it may disrupt function.
l(2)k14505P{TRiP.HMC03581}attP4053352Expresses dsRNA for RNAi of l(2)k14505 (FBgn0021856) under UAS control.
l(2)k14505P{TOE.GS01927}attP4078669Expresses sgRNAs ubiquitously for expression of l(2)k14505 (FBgn0021856) by a Cas9-based transcriptional activator.
ND-13AP{TRiP.HMC03434}attP4051860Expresses dsRNA for RNAi of CG8680 (FBgn0031684) under UAS control.
ND-13AP{TRiP.HM05062}attP228576Expresses dsRNA for RNAi of CG8680 (FBgn0031684) under UAS control.
ND-13AP{TKO.GS00824}attP4077042Expresses sgRNA ubiquitously for Cas9-mediated mutagenesis of ND-13A (FBgn0031684).
ND-23P{EP}ND-23[G14097]30201This insertion of P{EP} in the first exon is uncharacterized but is an unverified lethal (suggesting it may disrupt function).
ND-23P{TRiP.HMC03353}attP4051797Expresses dsRNA for RNAi of ND-23 (FBgn0017567) under UAS control.
ND-23P{TRiP.HM05229}attP230487Expresses dsRNA for RNAi of ND-23 under UAS control.
ND-23P{TKO.GS03460}attP4083757Expresses sgRNA ubiquitously for Cas9-mediated mutagenesis of ND-23 (FBgn0017567).
ND-23P{TOE.GS01910}attP4078657Expresses sgRNAs ubiquitously for expression of ND-23 (FBgn0017567) by a Cas9-based transcriptional activator.
ND-42P{EP}ND-42[G4500]30085This is a P{EP} insertion into non-coding sequence. It is uncharacterized but is an unverified lethal suggesting it may disrupt function.
ND-42P{TRiP.HMS00852}attP234526Expresses dsRNA for RNAi of ND-42 (FBgn0019957) under UAS control.
ND-42P{TRiP.HMS00798}attP232998Expresses dsRNA for RNAi of ND-42 (FBgn0019957) under UAS control.
ND-42P{TRiP.HM05104}attP228894Expresses dsRNA for RNAi of ND-42 (FBgn0019957) under UAS control.
ND-42P{TKO.GS01781}attP4079756Expresses sgRNA ubiquitously for Cas9-mediated mutagenesis of ND-42 (FBgn0019957).
ND-42P{TOE.GS01915}attP4078662Expresses sgRNAs ubiquitously for expression of ND-42 (FBgn0019957) by a Cas9-based transcriptional activator.
ND-49P{TRiP.HMC04814}attP4057499Expresses dsRNA for RNAi of ND-49 (FBgn0039909) under UAS control.
ND-49P{TRiP.HM05059}attP228573Expresses dsRNA for RNAi of ND-49 (FBgn0039909) under UAS control.
ND-49P{TKO.GS00865}attP4077076Expresses sgRNA ubiquitously for Cas9-mediated mutagenesis of ND-49 (FBgn0039909).
ND-49PBac{UAS-ND-49.HA}VK0003793839Expresses HA-tagged ND-49 under UAS control.
ND-49PBac{UAS-ND-49.HA}VK0003393840Expresses HA-tagged ND-49 under UAS control.
ND-49P{TOE.GS01293}attP4078150Expresses sgRNAs ubiquitously for expression of ND-49 (FBgn0039909) by a Cas9-based transcriptional activator.
ND-51P{SUPor-P}ND-51[KG01287]14362This 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-51P{TRiP.HMS01590}attP236701Expresses dsRNA for RNAi of ND-51 under UAS control.
ND-51P{TRiP.HMJ21591}attP4052939Expresses dsRNA for RNAi of ND-51 under UAS control.
ND-51P{TRiP.HM05213}attP229534Expresses dsRNA for RNAi of ND-51 under UAS control.
ND-51TI{T-GEM.1}ND-51[CR00277-TG4.1]83166CRISPR-based insertion of a CRIMIC cassette results in expression of GAL4 under ND-51 control. ND-51 is truncated and function is likely affected.
ND-51P{TKO.GS00671}attP4076944Expresses sgRNA ubiquitously for Cas9-mediated mutagenesis of ND-51 (FBgn0031771).
ND-51P{TOE.GS01523}attP4079717Expresses sgRNAs ubiquitously for expression of ND-51 (FBgn0031771) by a Cas9-based transcriptional activator.
ND-75P{TRiP.JF02791}attP227739Expresses dsRNA for RNAi of ND-75 under UAS control.
ND-75P{TRiP.HMS00854}attP233911Expresses dsRNA for RNAi of ND-75 under UAS control.
ND-75P{TRiP.HMS00853}attP233910Expresses dsRNA for RNAi of ND-75 under UAS control.
ND-75P{TOE.GS01909}attP4078656Expresses sgRNAs ubiquitously for expression of ND-75 (FBgn0017566) by a Cas9-based transcriptional activator.
ND-B12P{EPgy2}ND-B12[EY06181]16703This is a P{EPgy2} insertion into coding sequence. It is uncharacterized but is an unverified lethal suggesting it may disrupt function.
ND-B12P{TRiP.HMJ23156}attP4061321Expresses dsRNA for RNAi of ND-B12 (FBgn0034645) under UAS control.
ND-B17.2P{EP}ND-B17.2[G8213]33276This is a P{EP} insertion into coding sequence. It is uncharacterized but is an unverified lethal suggesting it may disrupt function.
ND-B17.2P{TRiP.HMS01584}attP236695Expresses dsRNA for RNAi of CG3214 (FBgn0031436) under UAS control.
ND-MWFEND-MWFE[k14301]11122This 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.
ND-MWFETI{CRIMIC.TG4.0}ND-MWFE[CR00565-TG4.0]80595CRISPR-based insertion of a CRIMIC cassette results in expression of GAL4 under ND-MWFE control. ND-MWFE is truncated and function is likely affected.
NdufAF1PBac{RB}NdufAF1[e03832]95478This PBac{PB} insertion is uncharacterized but is in the coding region and is an unverified lethal suggsting it might disrupt protein function.
NdufAF1P{EPgy2}NdufAF1[EY09101]16925This is a P{EPgy2} insertion into a non-coding exon. It is uncharacterized but is an unverified lethal suggesting it may disrupt function.
NdufAF1P{TRiP.HMC03815}attP4055660Expresses dsRNA for RNAi of CG7598 (FBgn0039689) under UAS control.
NdufAF1TI{KozakGAL4}NdufAF1[CR70918-KO-kG4]600111CRISPR-based insertion of a CRIMIC cassette results in expression of GAL4 under CIA30 control and deletion of some or most of the CIA30 coding sequence. Little or no GAL4 staining detected in larval nervous system
NdufAF1P{TOE.GS01303}attP4078157Expresses sgRNAs ubiquitously for expression of CIA30 (FBgn0039689) by a Cas9-based transcriptional activator.
NdufAF4P{TRiP.HMC03660}attP4052920Expresses dsRNA for RNAi of CG11722 (FBgn0037777) under UAS control.
NdufAF4P{TRiP.HM05053}attP228567Expresses dsRNA for RNAi of CG11722 (FBgn0037777) under UAS control.
NdufAF4P{TKO.GS00900}attP4077216Expresses sgRNA ubiquitously for Cas9-mediated mutagenesis of CG11722 (FBgn0037777).
NdufAF4P{TOE.GS02366}attP4079531Expresses sgRNAs ubiquitously for expression of CG11722 (FBgn0037777) by a Cas9-based transcriptional activator.
NDUFAF6 (human)PBac{UAS-NDUFAF6.Z}VK0003758466Expresses human NDUFAF6 under UAS control.
NDUFB3 (human)M{UAS-hNDUFB3.HA}ZH-86Fb66130Expresses human NDUFB3 under UAS control.
SCO1 (human)PBac{UAS-hSCO1.HA}VK0003394088Expresses HA-tagged human SCO1 under UAS control.
ScoxP{lacW}Scox[SH1783]29505Lethal insertion of P{lacW} into the coding region of the first exon. Lethality is rescued by Scox expression.
ScoxP{EPgy2}Scox[EY05333]16652Lethal insertion of P{EPgy2} into the non-coding region of the first exon. Lethality is rescued by Scox expression.
ScoxP{TRiP.HMC03860}attP4055179Expresses dsRNA for RNAi of Scox (FBgn0262467) under UAS control.
ScoxP{TOE.GS01364}attP4078191Expresses sgRNAs ubiquitously for expression of Scox (FBgn0262467) by a Cas9-based transcriptional activator.
SdhASdhA[5]1563EMS-induced loss of function allele (amino acid change G533D)
SdhASdhA[1110]51659SdhA loss of function allele caused by an E288K change.
SdhASdhA[8]94886This allele has stronger heat-sensitive phenotype than SdhA[2] and SdhA[7].
SdhASdhA[7]94885Harbors a heat-sensitive mutation (G301R).
SdhASdhA[2]94884Harbors a heat-sensitive mutation.
SdhASdhA[LA374]82426An allele of SdhA. This stock also expresses FLP and lacZ in the eye.
SdhASdhA[JQ171]82425SdhA[JQ171] carries amino acid change P656S. This stock also expresses FLP and lacZ in the eye.
SdhASdhA[1404]81120SdhA[1404] carries amino acid change V444E.
SdhAP{EPg}SdhA[HP21216]22087This 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).
SdhATI{CRIMIC.TG4.0}SdhA[CR02833-TG4.0]97635CRISPR-based insertion of a CRIMIC cassette results in expression of GAL4 under SdhA control.
SdhAP{GSV1}SdhA[s-153.1]43481This P{GSV1} insertion just upstream of the transcription start could overexpress SdhA in the presence of GAL4.
SdhAP{TOE.GS02376}attP4078294Expresses sgRNAs ubiquitously for expression of SdhA (FBgn0261439) by a Cas9-based transcriptional activator.
sicilysicily[E]52394A lethal allele caused by aa change Q133@.
sicilysicily[C]52393A lethal allele caused by a deletion removing the promoter and first two exons.
sicilyP{EPgy2}sicily[EY02706]15877This is a P{EPgy2} insertion into coding sequence. It is uncharacterized but is an unverified lethal suggesting it may disrupt function.
sicilyP{TRiP.HMC04019}attP4055332Expresses dsRNA for RNAi of sicily (FBgn0030352) under UAS control.
sicilyTI{CRIMIC.TG4.0}sicily[CR00431-TG4.0]79258CRISPR-based insertion of a CRIMIC cassette results in expression of GAL4 under sicily control. sicily is truncated and function is likely affected.
sicilyP{TKO.GS00714}attP4076971Expresses sgRNA ubiquitously for Cas9-mediated mutagenesis of sicily (FBgn0030352).
sicilyPBac{UAS-sicily.Z}VK0003367141Expresses sicily under UAS control.
sicilyP{TOE.GS01345}attP4078181Expresses sgRNAs ubiquitously for expression of sicily (FBgn0030352) by a Cas9-based transcriptional activator.
sicilyPBac{UAS-sicily.-MTS}VK00033605387Expresses sicily lacking the predicted N-terminal mitochondrial targeting sequence (amino acid residues 1-11), under the control of UAS.
sunP{EP}sun[G2065]26626This P{EP} insertion in the non-coding first exon is uncharacterized but is an unverified lethal (suggesting it may disrupt function).
sunP{TKO.GS05468}attP4091902Expresses sgRNA ubiquitously for Cas9-mediated mutagenesis of sun (FBgn0014391).
Surf1P{TRiP.JF01729}attP231210Expresses dsRNA for RNAi of Surf1 under UAS control.
Surf1P{TRiP.JF01691}attP231179Expresses dsRNA for RNAi of Surf1 under UAS control.
Surf1P{TRiP.HMC03338}attP4051783Expresses dsRNA for RNAi of Surf1 (FBgn0029117) under UAS control.
Surf1P{TKO.GS00771}attP4076997Expresses sgRNA ubiquitously for Cas9-mediated mutagenesis of Surf1 (FBgn0029117).
Surf1P{TOE.GS01220}attP4079660Expresses sgRNAs ubiquitously for expression of Surf1 (FBgn0029117) by a Cas9-based transcriptional activator.
Ttc19PBac{WH}Ttc19[f05160]18843A PBac{WH} insertion in coding sequence that exhibits bang-sensitivity, reduced motor activity, and reduced lifespan and fertility.
Ttc19P{TRiP.HMC05832}attP4064958Expresses dsRNA for RNAi of Ttc19 (FBgn0032744) under UAS control.