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
EWSR1 and NDUFV1	EWS RNA binding protein 1	NADH:ubiquinone oxidoreductase core subunit V1		Respiratory electron transport Complex I biogenesis		NADH	Ewing's sarcoma Myxoid liposarcoma Clear cell sarcoma of soft tissue Extraskeletal myxoid chondrosarcoma	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
FGFR3 and NDUFS6	fibroblast growth factor receptor 3	NADH:ubiquinone oxidoreductase subunit S6	Signaling by activated point mutants of FGFR3 FGFR3 mutant receptor activation t(4;14) translocations of FGFR3 Signaling by FGFR3 fusions in cancer Signaling by FGFR3 point mutants in cancer	Respiratory electron transport Complex I biogenesis	Palifermin XL999 Pazopanib Ponatinib Lenvatinib Nintedanib	NADH	Bladder cancer Multiple myeloma Lacrimo-auriculo-dento-digital syndrome (LADD); Levy-Hollister syndrome Craniosynostosis, including: Pfeiffer syndrome; Apert syndrome; Crouzon syndrome; Jackson-Weiss syndrome; Beare-Stevenson syndrome; Muenke craniosynostosis; Saethre-Chotzen syndrome; Craniosynostosis Boston type; Antley-Bixler syndrome; Carpenter syndrome; Craniofrontonasal dysplasia; Noonan syndrome; Baller-Gerold syndrome FGFR3-related short limb skeletal dysplasias, including: Achondroplasia; Hypochondroplasia; Thanatophoric dysplasia, type 1; Thanatophoric dysplasia, type 2; Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) CATSHL 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
GEM and NDUFS8	GTP binding protein overexpressed in skeletal muscle	NADH:ubiquinone oxidoreductase core subunit S8		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
GOLGB1 and NDUFA1	golgin B1	NADH:ubiquinone oxidoreductase subunit A1	Golgi Associated Vesicle Biogenesis COPI-mediated anterograde transport	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
GZMA and NDUFS3	granzyme A	NADH:ubiquinone oxidoreductase core subunit S3		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
HMOX2 and NDUFS2	heme oxygenase 2	NADH:ubiquinone oxidoreductase core subunit S2	Heme degradation Neutrophil degranulation Iron uptake and transport	Respiratory electron transport Complex I biogenesis	NADH Stannsoporfin	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
HSPB1 and UQCRB	heat shock protein family B (small) member 1	ubiquinol-cytochrome c reductase binding protein	VEGFA-VEGFR2 Pathway AUF1 (hnRNP D0) binds and destabilizes mRNA MAPK6/MAPK4 signaling Extra-nuclear estrogen signaling	Respiratory electron transport	Apatorsen Phenethyl Isothiocyanate	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	Distal hereditary motor neuropathies (dHMN)	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
HSPB2 and SDHA	heat shock protein family B (small) member 2	succinate dehydrogenase complex flavoprotein subunit A		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
SP110 and NDUFV2	SP110 nuclear body protein	NADH:ubiquinone oxidoreductase core subunit V2		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
KCNH2 and NDUFS6	potassium voltage-gated channel subfamily H member 2	NADH:ubiquinone oxidoreductase subunit S6	Voltage gated Potassium channels Phase 3 - rapid repolarisation	Respiratory electron transport Complex I biogenesis	Fluvoxamine Erythromycin Dofetilide Amsacrine Disopyramide Ibutilide Terfenadine Alfuzosin Loratadine Prazosin Imipramine Fluoxetine Chlorpromazine Sotalol Ciprofloxacin Doxazosin Cisapride Astemizole Verapamil Tamoxifen Thioridazine Quinidine Ketoconazole Procainamide Perhexiline Pimozide Miconazole Amiodarone Carvedilol Doxepin Nefazodone Terazosin Propafenone Flecainide Clarithromycin Halofantrine Bepridil Dronedarone Azimilide Sertindole Vernakalant Chlorobutanol	NADH	Long QT syndrome, including: Romano-Ward syndrome; Jervell and Lange-Nielsen syndrome (JLNS) Short QT 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
LMNA and SFTPC	lamin A/C	surfactant protein C	XBP1(S) activates chaperone genes Signaling by BRAF and RAF fusions	Surfactant metabolism Defective pro-SFTPC causes pulmonary surfactant metabolism dysfunction 2 (SMDP2) and respiratory distress syndrome (RDS) Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5) Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4)			Restrictive dermopathy Emery-Dreifuss muscular dystrophy Dilated cardiomyopathy (DCM) Charcot-Marie-Tooth disease (CMT); Hereditary motor and sensory neuropathy; Peroneal muscular atrophy Mandibuloacral dysplasia Congenital muscular dystrophies (CMD/MDC), including: Merosin-deficient CMD (MDC1A); Ullrich CMD (UCMD); Integrin alpha7-deficient CMD; CMD with joint hyperlaxity (CMDH); CMD with epidermolysis bullosa; Walker-Warburg syndrome (WWS); Muscle-eye-brain disease (MEB); Fukuyama CMD (FCMD); CMD with muscle hypertrophy (MDC1C); CMD with severe intellectual impairment and abnormal glycosylation (MDC1D); Rigid spine syndrome (RSS); LMNA-deficient CMD; CMD with respiratory failure and muscle hypertrophy (MDC1B); Bethlem myopathy Limb-girdle muscular dystrophy (LGMD) Familial partial lipodystrophy (FPL), including the following four diseases: Kobberling-type lipodystrophy (FPLD1); Dunnigan-type lipodystrophy (FPLD2); Dunnigan-like lipodystrophy (FPLD3); AKT2 associated lipodystrophy Hutchinson-Gilford progeria syndrome	Pulmonary surfactant metabolism dysfunction (SMDP)
LMNA and COX14	lamin A/C	cytochrome c oxidase assembly factor COX14	XBP1(S) activates chaperone genes Signaling by BRAF and RAF fusions	TP53 Regulates Metabolic Genes Respiratory electron transport			Restrictive dermopathy Emery-Dreifuss muscular dystrophy Dilated cardiomyopathy (DCM) Charcot-Marie-Tooth disease (CMT); Hereditary motor and sensory neuropathy; Peroneal muscular atrophy Mandibuloacral dysplasia Congenital muscular dystrophies (CMD/MDC), including: Merosin-deficient CMD (MDC1A); Ullrich CMD (UCMD); Integrin alpha7-deficient CMD; CMD with joint hyperlaxity (CMDH); CMD with epidermolysis bullosa; Walker-Warburg syndrome (WWS); Muscle-eye-brain disease (MEB); Fukuyama CMD (FCMD); CMD with muscle hypertrophy (MDC1C); CMD with severe intellectual impairment and abnormal glycosylation (MDC1D); Rigid spine syndrome (RSS); LMNA-deficient CMD; CMD with respiratory failure and muscle hypertrophy (MDC1B); Bethlem myopathy Limb-girdle muscular dystrophy (LGMD) Familial partial lipodystrophy (FPL), including the following four diseases: Kobberling-type lipodystrophy (FPLD1); Dunnigan-type lipodystrophy (FPLD2); Dunnigan-like lipodystrophy (FPLD3); AKT2 associated lipodystrophy Hutchinson-Gilford progeria syndrome
MAGEA1 and UQCRB	MAGE family member A1	ubiquinol-cytochrome c reductase binding protein		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		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
MAGEA4 and UQCRB	MAGE family member A4	ubiquinol-cytochrome c reductase binding protein		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		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
MDH2 and NDUFS1	malate dehydrogenase 2	NADH:ubiquinone oxidoreductase core subunit S1	Gluconeogenesis Citric acid cycle (TCA cycle)	Respiratory electron transport Complex I biogenesis	NADH Citric Acid Xanthinol	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
MT-CO3 and RAC1	cytochrome c oxidase III	Rac family small GTPase 1	TP53 Regulates Metabolic Genes Respiratory electron transport	GPVI-mediated activation cascade PIP3 activates AKT signaling Signaling by SCF-KIT Translocation of SLC2A4 (GLUT4) to the plasma membrane Nef and signal transduction NRAGE signals death through JNK Rho GTPase cycle Regulation of actin dynamics for phagocytic cup formation Regulation of actin dynamics for phagocytic cup formation Constitutive Signaling by Aberrant PI3K in Cancer DAP12 signaling FCERI mediated MAPK activation DSCAM interactions CD28 dependent Vav1 pathway EPHB-mediated forward signaling Ephrin signaling EPH-ephrin mediated repulsion of cells Sema3A PAK dependent Axon repulsion SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion PCP/CE pathway Sema4D mediated inhibition of cell attachment and migration DCC mediated attractive signaling DCC mediated attractive signaling Activation of RAC1 Inactivation of CDC42 and RAC1 VEGFA-VEGFR2 Pathway Signal transduction by L1 VEGFR2 mediated vascular permeability RHO GTPases activate PKNs RHO GTPases activate CIT RHO GTPases activate CIT RHO GTPases activate KTN1 RHO GTPases activate IQGAPs RHO GTPases activate PAKs RHO GTPases Activate WASPs and WAVEs RHO GTPases Activate WASPs and WAVEs RHO GTPases Activate Formins RHO GTPases Activate Formins RHO GTPases Activate NADPH Oxidases MAPK6/MAPK4 signaling Neutrophil degranulation PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases MET activates RAP1 and RAC1 NTRK2 activates RAC1 Activated NTRK2 signals through CDK5 Activation of RAC1 downstream of NMDARs FCGR3A-mediated phagocytosis FCGR3A-mediated phagocytosis WNT5:FZD7-mediated leishmania damping Factors involved in megakaryocyte development and platelet production	Cholic Acid N-Formylmethionine	Dextromethorphan Azathioprine Guanosine-5'-Diphosphate	Leber optic atrophy; Leber hereditary optic atrophy (LHON)
NDUFA1 and TRIM55	NADH:ubiquinone oxidoreductase subunit A1	tripartite motif containing 55	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
NDUFA1 and TRIM63	NADH:ubiquinone oxidoreductase subunit A1	tripartite motif containing 63	Respiratory electron transport Complex I biogenesis	FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes 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
NDUFS1 and KDM1A	NADH:ubiquinone oxidoreductase core subunit S1	lysine demethylase 1A	Respiratory electron transport Complex I biogenesis	HDACs deacetylate histones HDMs demethylate histones Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 Regulation of PTEN gene transcription Estrogen-dependent gene expression NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux Factors involved in megakaryocyte development and platelet production	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
NDUFS2 and TNFRSF14	NADH:ubiquinone oxidoreductase core subunit S2	TNF receptor superfamily member 14	Respiratory electron transport Complex I biogenesis	Costimulation by the CD28 family Costimulation by the CD28 family TNFs bind their physiological receptors	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

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