Respiratory - Wiki-CORONA

Symbols	Name 1	Name 2	Pathways 1 Hide	Pathways 2 Hide	Drugs 1 Hide	Drugs 2 Hide	Diseases 1 Hide	Diseases 2 Hide
NDUFS2 and CENPU	NADH:ubiquinone oxidoreductase core subunit S2	centromere protein U	Respiratory electron transport Complex I biogenesis	Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal Separation of Sister Chromatids Resolution of Sister Chromatid Cohesion RHO GTPases Activate Formins Deposition of new CENPA-containing nucleosomes at the centromere Mitotic Prometaphase EML4 and NUDC in mitotic spindle formation	NADH		Mitochondrial respiratory chain deficiencies (MRCD), including: Mitochondrial complex I deficiency (MT-C1D); Complex II deficiency (MT-C2D); Complex III deficiency (MT-C3D); Complex IV deficiency (MT-C4D); Complex V deficiency (MT-ATPSD); Leigh syndrome (LS); Kearns-Sayre Syndrome (KSS); LCHD deficiency (LCHD); Leber Hereditary Optic Neuropathy (LHON); Myoclonic Epilepsy and Ragged-Red Fiber Disease (MERRF); NARP; MELAS; ACAD9 deficiency; HADH deficiency; HIBCH deficiency; GRACILE syndrome
NDUFS3 and RASL10B	NADH:ubiquinone oxidoreductase core subunit S3	RAS like family 10 member B	Respiratory electron transport Complex I biogenesis		NADH		Mitochondrial respiratory chain deficiencies (MRCD), including: Mitochondrial complex I deficiency (MT-C1D); Complex II deficiency (MT-C2D); Complex III deficiency (MT-C3D); Complex IV deficiency (MT-C4D); Complex V deficiency (MT-ATPSD); Leigh syndrome (LS); Kearns-Sayre Syndrome (KSS); LCHD deficiency (LCHD); Leber Hereditary Optic Neuropathy (LHON); Myoclonic Epilepsy and Ragged-Red Fiber Disease (MERRF); NARP; MELAS; ACAD9 deficiency; HADH deficiency; HIBCH deficiency; GRACILE syndrome
NDUFS4 and UBE2G2	NADH:ubiquinone oxidoreductase subunit S4	ubiquitin conjugating enzyme E2 G2	Respiratory electron transport Complex I biogenesis	Synthesis of active ubiquitin: roles of E1 and E2 enzymes Antigen processing: Ubiquitination & Proteasome degradation	NADH		Mitochondrial respiratory chain deficiencies (MRCD), including: Mitochondrial complex I deficiency (MT-C1D); Complex II deficiency (MT-C2D); Complex III deficiency (MT-C3D); Complex IV deficiency (MT-C4D); Complex V deficiency (MT-ATPSD); Leigh syndrome (LS); Kearns-Sayre Syndrome (KSS); LCHD deficiency (LCHD); Leber Hereditary Optic Neuropathy (LHON); Myoclonic Epilepsy and Ragged-Red Fiber Disease (MERRF); NARP; MELAS; ACAD9 deficiency; HADH deficiency; HIBCH deficiency; GRACILE syndrome
NDUFS6 and MAPK6	NADH:ubiquinone oxidoreductase subunit S6	mitogen-activated protein kinase 6	Respiratory electron transport Complex I biogenesis	MAPK6/MAPK4 signaling	NADH		Mitochondrial respiratory chain deficiencies (MRCD), including: Mitochondrial complex I deficiency (MT-C1D); Complex II deficiency (MT-C2D); Complex III deficiency (MT-C3D); Complex IV deficiency (MT-C4D); Complex V deficiency (MT-ATPSD); Leigh syndrome (LS); Kearns-Sayre Syndrome (KSS); LCHD deficiency (LCHD); Leber Hereditary Optic Neuropathy (LHON); Myoclonic Epilepsy and Ragged-Red Fiber Disease (MERRF); NARP; MELAS; ACAD9 deficiency; HADH deficiency; HIBCH deficiency; GRACILE syndrome
NDUFS6 and MAP3K7	NADH:ubiquinone oxidoreductase subunit S6	mitogen-activated protein kinase kinase kinase 7	Respiratory electron transport Complex I biogenesis	Activation of NF-kappaB in B cells NOD1/2 Signaling Pathway Downstream TCR signaling FCERI mediated NF-kB activation Ca2+ pathway TAK1 activates NFkB by phosphorylation and activation of IKKs complex activated TAK1 mediates p38 MAPK activation JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1 TNFR1-induced NFkappaB signaling pathway CLEC7A (Dectin-1) signaling Ub-specific processing proteases TICAM1,TRAF6-dependent induction of TAK1 complex Interleukin-1 signaling IRAK2 mediated activation of TAK1 complex TRAF6-mediated induction of TAK1 complex within TLR4 complex Alpha-protein kinase 1 signaling pathway IRAK2 mediated activation of TAK1 complex upon TLR7/8 or 9 stimulation	NADH		Mitochondrial respiratory chain deficiencies (MRCD), including: Mitochondrial complex I deficiency (MT-C1D); Complex II deficiency (MT-C2D); Complex III deficiency (MT-C3D); Complex IV deficiency (MT-C4D); Complex V deficiency (MT-ATPSD); Leigh syndrome (LS); Kearns-Sayre Syndrome (KSS); LCHD deficiency (LCHD); Leber Hereditary Optic Neuropathy (LHON); Myoclonic Epilepsy and Ragged-Red Fiber Disease (MERRF); NARP; MELAS; ACAD9 deficiency; HADH deficiency; HIBCH deficiency; GRACILE syndrome
NDUFS6 and MAPK8IP2	NADH:ubiquinone oxidoreductase subunit S6	mitogen-activated protein kinase 8 interacting protein 2	Respiratory electron transport Complex I biogenesis		NADH		Mitochondrial respiratory chain deficiencies (MRCD), including: Mitochondrial complex I deficiency (MT-C1D); Complex II deficiency (MT-C2D); Complex III deficiency (MT-C3D); Complex IV deficiency (MT-C4D); Complex V deficiency (MT-ATPSD); Leigh syndrome (LS); Kearns-Sayre Syndrome (KSS); LCHD deficiency (LCHD); Leber Hereditary Optic Neuropathy (LHON); Myoclonic Epilepsy and Ragged-Red Fiber Disease (MERRF); NARP; MELAS; ACAD9 deficiency; HADH deficiency; HIBCH deficiency; GRACILE syndrome
NDUFS8 and UBC	NADH:ubiquinone oxidoreductase core subunit S8	ubiquitin C	Respiratory electron transport Complex I biogenesis	Translesion synthesis by REV1 Recognition of DNA damage by PCNA-containing replication complex Translesion Synthesis by POLH Activation of NF-kappaB in B cells ISG15 antiviral mechanism Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants ER-Phagosome pathway Downregulation of ERBB4 signaling Spry regulation of FGF signaling Downregulation of ERBB2:ERBB3 signaling Budding and maturation of HIV virion NOD1/2 Signaling Pathway TICAM1, RIP1-mediated IKK complex recruitment DDX58/IFIH1-mediated induction of interferon-alpha/beta APC/C:Cdc20 mediated degradation of Cyclin B Autodegradation of Cdh1 by Cdh1:APC/C SCF-beta-TrCP mediated degradation of Emi1 APC/C:Cdc20 mediated degradation of Securin APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1 Cdc20:Phospho-APC/C mediated degradation of Cyclin A Membrane binding and targetting of GAG proteins Assembly Of The HIV Virion APC-Cdc20 mediated degradation of Nek2A Vpu mediated degradation of CD4 Vif-mediated degradation of APOBEC3G EGFR downregulation SCF(Skp2)-mediated degradation of p27/p21 Degradation of beta-catenin by the destruction complex TCF dependent signaling in response to WNT Downstream TCR signaling NRIF signals cell death from the nucleus p75NTR recruits signalling complexes NF-kB is activated and signals survival Regulation of activated PAK-2p34 by proteasome mediated degradation NOTCH1 Intracellular Domain Regulates Transcription Activated NOTCH1 Transmits Signal to the Nucleus Activated NOTCH1 Transmits Signal to the Nucleus Downregulation of TGF-beta receptor signaling Downregulation of TGF-beta receptor signaling TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition) Downregulation of SMAD2/3:SMAD4 transcriptional activity Downregulation of SMAD2/3:SMAD4 transcriptional activity SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription Separation of Sister Chromatids Oxidative Stress Induced Senescence Senescence-Associated Secretory Phenotype (SASP) Oncogene Induced Senescence Regulation of PLK1 Activity at G2/M Transition Constitutive Signaling by NOTCH1 PEST Domain Mutants Stimuli-sensing channels Constitutive Signaling by NOTCH1 HD Domain Mutants FCERI mediated NF-kB activation Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants NOTCH2 Activation and Transmission of Signal to the Nucleus Regulation of innate immune responses to cytosolic DNA Glycogen synthesis Autodegradation of the E3 ubiquitin ligase COP1 Deactivation of the beta-catenin transactivating complex Myoclonic epilepsy of Lafora ABC-family proteins mediated transport Circadian Clock TAK1 activates NFkB by phosphorylation and activation of IKKs complex activated TAK1 mediates p38 MAPK activation JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1 AUF1 (hnRNP D0) binds and destabilizes mRNA Asymmetric localization of PCP proteins Degradation of AXIN Degradation of DVL Regulation of FZD by ubiquitination Pink/Parkin Mediated Mitophagy N-glycan trimming in the ER and Calnexin/Calreticulin cycle Regulation of TNFR1 signaling TNFR1-induced NFkappaB signaling pathway Hedgehog ligand biogenesis Hh mutants that don't undergo autocatalytic processing are degraded by ERAD Dectin-1 mediated noncanonical NF-kB signaling CLEC7A (Dectin-1) signaling Degradation of GLI1 by the proteasome Degradation of GLI2 by the proteasome GLI3 is processed to GLI3R by the proteasome Hedgehog 'on' state Hedgehog 'on' state Negative regulation of FGFR1 signaling Negative regulation of FGFR2 signaling Negative regulation of FGFR3 signaling Negative regulation of FGFR4 signaling Translesion synthesis by POLK Translesion synthesis by POLI Termination of translesion DNA synthesis Regulation of RAS by GAPs TNFR2 non-canonical NF-kB pathway Negative regulation of MAPK pathway Regulation of necroptotic cell death NIK - noncanonical NF-kB signaling Defective CFTR causes cystic fibrosis MAP3K8 (TPL2)-dependent MAPK1/3 activation HDR through Homologous Recombination (HRR) MAPK6/MAPK4 signaling UCH proteinases UCH proteinases Josephin domain DUBs Ub-specific processing proteases Ovarian tumor domain proteases Metalloprotease DUBs Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks Processing of DNA double-strand break ends DNA Damage Recognition in GG-NER Formation of Incision Complex in GG-NER Gap-filling DNA repair synthesis and ligation in GG-NER Dual Incision in GG-NER Formation of TC-NER Pre-Incision Complex Transcription-Coupled Nucleotide Excision Repair (TC-NER) Dual incision in TC-NER Gap-filling DNA repair synthesis and ligation in TC-NER Fanconi Anemia Pathway Regulation of TP53 Activity through Phosphorylation Regulation of TP53 Degradation Regulation of TP53 Activity through Methylation Negative regulation of MET activity CDT1 association with the CDC6:ORC:origin complex Orc1 removal from chromatin CDK-mediated phosphorylation and removal of Cdc6 Cyclin D associated events in G1 G2/M Checkpoints Stabilization of p53 Ubiquitin Mediated Degradation of Phosphorylated Cdc25A Ubiquitin-dependent degradation of Cyclin D PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1 The role of GTSE1 in G2/M progression after G2 checkpoint FBXL7 down-regulates AURKA during mitotic entry and in early mitosis Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis Downregulation of ERBB2 signaling Synthesis of active ubiquitin: roles of E1 and E2 enzymes Synthesis of active ubiquitin: roles of E1 and E2 enzymes E3 ubiquitin ligases ubiquitinate target proteins InlB-mediated entry of Listeria monocytogenes into host cell InlB-mediated entry of Listeria monocytogenes into host cell InlA-mediated entry of Listeria monocytogenes into host cells RUNX1 regulates transcription of genes involved in differentiation of HSCs Regulation of RUNX2 expression and activity Regulation of RUNX2 expression and activity Regulation of RUNX3 expression and activity Regulation of PTEN localization Regulation of PTEN stability and activity Neddylation ER Quality Control Compartment (ERQC) Regulation of expression of SLITs and ROBOs Regulation of expression of SLITs and ROBOs NOTCH3 Activation and Transmission of Signal to the Nucleus NOTCH3 Activation and Transmission of Signal to the Nucleus TICAM1-dependent activation of IRF3/IRF7 TICAM1,TRAF6-dependent induction of TAK1 complex Interleukin-1 signaling Peroxisomal protein import Peroxisomal protein import Regulation of signaling by CBL Endosomal Sorting Complex Required For Transport (ESCRT) Iron uptake and transport Negative regulators of DDX58/IFIH1 signaling Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon IRAK1 recruits IKK complex IKK complex recruitment mediated by RIP1 IRAK2 mediated activation of TAK1 complex TRAF6-mediated induction of TAK1 complex within TLR4 complex Negative regulation of NOTCH4 signaling Chaperone Mediated Autophagy Late endosomal microautophagy Prevention of phagosomal-lysosomal fusion Modulation by Mtb of host immune system Alpha-protein kinase 1 signaling pathway Aggrephagy Aggrephagy Pexophagy TRAF6 mediated IRF7 activation in TLR7/8 or 9 signaling IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation IRAK2 mediated activation of TAK1 complex upon TLR7/8 or 9 stimulation Amyloid fiber formation Antigen processing: Ubiquitination & Proteasome degradation	NADH	N-Formylmethionine	Mitochondrial respiratory chain deficiencies (MRCD), including: Mitochondrial complex I deficiency (MT-C1D); Complex II deficiency (MT-C2D); Complex III deficiency (MT-C3D); Complex IV deficiency (MT-C4D); Complex V deficiency (MT-ATPSD); Leigh syndrome (LS); Kearns-Sayre Syndrome (KSS); LCHD deficiency (LCHD); Leber Hereditary Optic Neuropathy (LHON); Myoclonic Epilepsy and Ragged-Red Fiber Disease (MERRF); NARP; MELAS; ACAD9 deficiency; HADH deficiency; HIBCH deficiency; GRACILE syndrome
NDUFV2 and KAT5	NADH:ubiquinone oxidoreductase core subunit V2	lysine acetyltransferase 5	Respiratory electron transport Complex I biogenesis	Formation of the beta-catenin:TCF transactivating complex Formation of the beta-catenin:TCF transactivating complex DNA Damage/Telomere Stress Induced Senescence HATs acetylate histones HDR through Single Strand Annealing (SSA) HDR through Homologous Recombination (HRR) Sensing of DNA Double Strand Breaks Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks Resolution of D-loop Structures through Holliday Junction Intermediates Nonhomologous End-Joining (NHEJ) Homologous DNA Pairing and Strand Exchange Processing of DNA double-strand break ends Presynaptic phase of homologous DNA pairing and strand exchange Regulation of TP53 Activity through Phosphorylation G2/M DNA damage checkpoint Estrogen-dependent gene expression	NADH	Coenzyme A S-Acetyl-Cysteine	Mitochondrial respiratory chain deficiencies (MRCD), including: Mitochondrial complex I deficiency (MT-C1D); Complex II deficiency (MT-C2D); Complex III deficiency (MT-C3D); Complex IV deficiency (MT-C4D); Complex V deficiency (MT-ATPSD); Leigh syndrome (LS); Kearns-Sayre Syndrome (KSS); LCHD deficiency (LCHD); Leber Hereditary Optic Neuropathy (LHON); Myoclonic Epilepsy and Ragged-Red Fiber Disease (MERRF); NARP; MELAS; ACAD9 deficiency; HADH deficiency; HIBCH deficiency; GRACILE syndrome
SDHA and WBP2	succinate dehydrogenase complex flavoprotein subunit A	WW domain binding protein 2	Respiratory electron transport Citric acid cycle (TCA cycle)		Succinic acid 2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol Carboxin Thenoyltrifluoroacetone UBIQUINONE-1 Ubidecarenone		Mitochondrial respiratory chain deficiencies (MRCD), including: Mitochondrial complex I deficiency (MT-C1D); Complex II deficiency (MT-C2D); Complex III deficiency (MT-C3D); Complex IV deficiency (MT-C4D); Complex V deficiency (MT-ATPSD); Leigh syndrome (LS); Kearns-Sayre Syndrome (KSS); LCHD deficiency (LCHD); Leber Hereditary Optic Neuropathy (LHON); Myoclonic Epilepsy and Ragged-Red Fiber Disease (MERRF); NARP; MELAS; ACAD9 deficiency; HADH deficiency; HIBCH deficiency; GRACILE syndrome Diseases of the tricarboxylic acid cycle, including: Fumarase (FH) deficiency; Succinate dehydrogenase (SDH) deficiency; Alpha-ketoglutarate dehydrogenase (AKGDH) deficiency
SURF1 and PTGES3	SURF1 cytochrome c oxidase assembly factor	prostaglandin E synthase 3	TP53 Regulates Metabolic Genes Respiratory electron transport	Synthesis of Prostaglandins (PG) and Thromboxanes (TX) HSP90 chaperone cycle for steroid hormone receptors (SHR) HSF1 activation Attenuation phase Aryl hydrocarbon receptor signalling ESR-mediated signaling Estrogen-dependent gene expression		Grn163l Copper	Mitochondrial respiratory chain deficiencies (MRCD), including: Mitochondrial complex I deficiency (MT-C1D); Complex II deficiency (MT-C2D); Complex III deficiency (MT-C3D); Complex IV deficiency (MT-C4D); Complex V deficiency (MT-ATPSD); Leigh syndrome (LS); Kearns-Sayre Syndrome (KSS); LCHD deficiency (LCHD); Leber Hereditary Optic Neuropathy (LHON); Myoclonic Epilepsy and Ragged-Red Fiber Disease (MERRF); NARP; MELAS; ACAD9 deficiency; HADH deficiency; HIBCH deficiency; GRACILE syndrome
UQCRB and ACCS	ubiquinol-cytochrome c reductase binding protein	1-aminocyclopropane-1-carboxylate synthase homolog (inactive)	Respiratory electron transport		2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol 5-n-undecyl-6-hydroxy-4,7-dioxobenzothiazole METHYL (2Z)-2-(2-{[6-(2-CYANOPHENOXY)PYRIMIDIN-4-YL]OXY}PHENYL)-3-METHOXYACRYLATE 5-HEPTYL-6-HYDROXY-1,3-BENZOTHIAZOLE-4,7-DIONE (5S)-3-ANILINO-5-(2,4-DIFLUOROPHENYL)-5-METHYL-1,3-OXAZOLIDINE-2,4-DIONE FAMOXADONE METHYL (2Z)-3-METHOXY-2-{2-[(E)-2-PHENYLVINYL]PHENYL}ACRYLATE 2-NONYL-4-HYDROXYQUINOLINE N-OXIDE UBIQUINONE-2	Vinylglycine	Mitochondrial respiratory chain deficiencies (MRCD), including: Mitochondrial complex I deficiency (MT-C1D); Complex II deficiency (MT-C2D); Complex III deficiency (MT-C3D); Complex IV deficiency (MT-C4D); Complex V deficiency (MT-ATPSD); Leigh syndrome (LS); Kearns-Sayre Syndrome (KSS); LCHD deficiency (LCHD); Leber Hereditary Optic Neuropathy (LHON); Myoclonic Epilepsy and Ragged-Red Fiber Disease (MERRF); NARP; MELAS; ACAD9 deficiency; HADH deficiency; HIBCH deficiency; GRACILE syndrome
UQCRB and LRRK2	ubiquinol-cytochrome c reductase binding protein	leucine rich repeat kinase 2	Respiratory electron transport	PTK6 promotes HIF1A stabilization	2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol 5-n-undecyl-6-hydroxy-4,7-dioxobenzothiazole METHYL (2Z)-2-(2-{[6-(2-CYANOPHENOXY)PYRIMIDIN-4-YL]OXY}PHENYL)-3-METHOXYACRYLATE 5-HEPTYL-6-HYDROXY-1,3-BENZOTHIAZOLE-4,7-DIONE (5S)-3-ANILINO-5-(2,4-DIFLUOROPHENYL)-5-METHYL-1,3-OXAZOLIDINE-2,4-DIONE FAMOXADONE METHYL (2Z)-3-METHOXY-2-{2-[(E)-2-PHENYLVINYL]PHENYL}ACRYLATE 2-NONYL-4-HYDROXYQUINOLINE N-OXIDE UBIQUINONE-2		Mitochondrial respiratory chain deficiencies (MRCD), including: Mitochondrial complex I deficiency (MT-C1D); Complex II deficiency (MT-C2D); Complex III deficiency (MT-C3D); Complex IV deficiency (MT-C4D); Complex V deficiency (MT-ATPSD); Leigh syndrome (LS); Kearns-Sayre Syndrome (KSS); LCHD deficiency (LCHD); Leber Hereditary Optic Neuropathy (LHON); Myoclonic Epilepsy and Ragged-Red Fiber Disease (MERRF); NARP; MELAS; ACAD9 deficiency; HADH deficiency; HIBCH deficiency; GRACILE syndrome	Lewy body dementia (LBD); Dementia with Lewy bodies (DLB) Parkinson's disease (PD)
UQCRC1 and NLGN3	ubiquinol-cytochrome c reductase core protein 1	neuroligin 3	Respiratory electron transport	Neurexins and neuroligins Neurexins and neuroligins	2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol Myxothiazol 5-n-undecyl-6-hydroxy-4,7-dioxobenzothiazole METHYL (2Z)-2-(2-{[6-(2-CYANOPHENOXY)PYRIMIDIN-4-YL]OXY}PHENYL)-3-METHOXYACRYLATE (5S)-3-ANILINO-5-(2,4-DIFLUOROPHENYL)-5-METHYL-1,3-OXAZOLIDINE-2,4-DIONE FAMOXADONE METHYL (2Z)-3-METHOXY-2-{2-[(E)-2-PHENYLVINYL]PHENYL}ACRYLATE 2-NONYL-4-HYDROXYQUINOLINE N-OXIDE UBIQUINONE-2
OPTN and UQCRQ	optineurin	ubiquinol-cytochrome c reductase complex III subunit VII	Regulation of PLK1 Activity at G2/M Transition TBC/RABGAPs	Respiratory electron transport		2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol 5-n-undecyl-6-hydroxy-4,7-dioxobenzothiazole METHYL (2Z)-2-(2-{[6-(2-CYANOPHENOXY)PYRIMIDIN-4-YL]OXY}PHENYL)-3-METHOXYACRYLATE (5S)-3-ANILINO-5-(2,4-DIFLUOROPHENYL)-5-METHYL-1,3-OXAZOLIDINE-2,4-DIONE FAMOXADONE METHYL (2Z)-3-METHOXY-2-{2-[(E)-2-PHENYLVINYL]PHENYL}ACRYLATE 2-NONYL-4-HYDROXYQUINOLINE N-OXIDE UBIQUINONE-2	Amyotrophic lateral sclerosis (ALS); Lou Gehrig's disease Primary open angle glaucoma	Mitochondrial respiratory chain deficiencies (MRCD), including: Mitochondrial complex I deficiency (MT-C1D); Complex II deficiency (MT-C2D); Complex III deficiency (MT-C3D); Complex IV deficiency (MT-C4D); Complex V deficiency (MT-ATPSD); Leigh syndrome (LS); Kearns-Sayre Syndrome (KSS); LCHD deficiency (LCHD); Leber Hereditary Optic Neuropathy (LHON); Myoclonic Epilepsy and Ragged-Red Fiber Disease (MERRF); NARP; MELAS; ACAD9 deficiency; HADH deficiency; HIBCH deficiency; GRACILE syndrome
NDUFA13 and ECSIT	NADH:ubiquinone oxidoreductase subunit A13	ECSIT signaling integrator	Respiratory electron transport Complex I biogenesis	MyD88:MAL(TIRAP) cascade initiated on plasma membrane Complex I biogenesis TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation MyD88 cascade initiated on plasma membrane	NADH
CYCS and COX4I2	cytochrome c, somatic	cytochrome c oxidase subunit 4I2	Release of apoptotic factors from the mitochondria Formation of apoptosome Activation of caspases through apoptosome-mediated cleavage SMAC (DIABLO) binds to IAPs SMAC(DIABLO)-mediated dissociation of IAP:caspase complexes Transcriptional activation of mitochondrial biogenesis Detoxification of Reactive Oxygen Species TP53 Regulates Metabolic Genes Respiratory electron transport Regulation of the apoptosome activity Regulation of the apoptosome activity		Minocycline Protoporphyrin Ix Containing Co Heme C Imidazole Protoporphyrin Ix Containing Zn N-Trimethyllysine Zinc Substituted Heme C		Thrombocytopenia (THC); Familial platelet disorder with associated myeloid malignancy (FPDMM)
UQCRQ and POLR2M	ubiquinol-cytochrome c reductase complex III subunit VII	RNA polymerase II subunit M	Respiratory electron transport		2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol 5-n-undecyl-6-hydroxy-4,7-dioxobenzothiazole METHYL (2Z)-2-(2-{[6-(2-CYANOPHENOXY)PYRIMIDIN-4-YL]OXY}PHENYL)-3-METHOXYACRYLATE (5S)-3-ANILINO-5-(2,4-DIFLUOROPHENYL)-5-METHYL-1,3-OXAZOLIDINE-2,4-DIONE FAMOXADONE METHYL (2Z)-3-METHOXY-2-{2-[(E)-2-PHENYLVINYL]PHENYL}ACRYLATE 2-NONYL-4-HYDROXYQUINOLINE N-OXIDE UBIQUINONE-2		Mitochondrial respiratory chain deficiencies (MRCD), including: Mitochondrial complex I deficiency (MT-C1D); Complex II deficiency (MT-C2D); Complex III deficiency (MT-C3D); Complex IV deficiency (MT-C4D); Complex V deficiency (MT-ATPSD); Leigh syndrome (LS); Kearns-Sayre Syndrome (KSS); LCHD deficiency (LCHD); Leber Hereditary Optic Neuropathy (LHON); Myoclonic Epilepsy and Ragged-Red Fiber Disease (MERRF); NARP; MELAS; ACAD9 deficiency; HADH deficiency; HIBCH deficiency; GRACILE syndrome
ABCA1 and SDHB	ATP binding cassette subfamily A member 1	succinate dehydrogenase complex iron sulfur subunit B	PPARA activates gene expression Defective ABCA1 causes Tangier disease HDL assembly NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux	Respiratory electron transport Citric acid cycle (TCA cycle)	ATP Glyburide Probucol	Succinic acid 2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol UBIQUINONE-1	Tangier disease Hypoalphalipoproteinemia
AMBP and COX8A	alpha-1-microglobulin/bikunin precursor	cytochrome c oxidase subunit 8A	Scavenging of heme from plasma	TP53 Regulates Metabolic Genes Respiratory electron transport	Human Serum Albumin	Cholic Acid N-Formylmethionine
AOX1 and BCS1L	aldehyde oxidase 1	BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone	Vitamins B6 activation to pyridoxal phosphate	Mitochondrial protein import	Eniluracil		Xanthinuria	Bjornstad syndrome Mitochondrial respiratory chain deficiencies (MRCD), including: Mitochondrial complex I deficiency (MT-C1D); Complex II deficiency (MT-C2D); Complex III deficiency (MT-C3D); Complex IV deficiency (MT-C4D); Complex V deficiency (MT-ATPSD); Leigh syndrome (LS); Kearns-Sayre Syndrome (KSS); LCHD deficiency (LCHD); Leber Hereditary Optic Neuropathy (LHON); Myoclonic Epilepsy and Ragged-Red Fiber Disease (MERRF); NARP; MELAS; ACAD9 deficiency; HADH deficiency; HIBCH deficiency; GRACILE syndrome

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