EWSR1 and NDUFV1 |
EWS RNA binding protein 1 |
NADH:ubiquinone oxidoreductase core subunit V1 |
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- Respiratory electron transport
- Complex I biogenesis
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- Ewing's sarcoma
- Myxoid liposarcoma
- Clear cell sarcoma of soft tissue
- Extraskeletal myxoid chondrosarcoma
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- 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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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
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- Respiratory electron transport
- Complex I biogenesis
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- Palifermin
- XL999
- Pazopanib
- Ponatinib
- Lenvatinib
- Nintedanib
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- 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
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- 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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GEM and NDUFS8 |
GTP binding protein overexpressed in skeletal muscle |
NADH:ubiquinone oxidoreductase core subunit S8 |
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- Respiratory electron transport
- Complex I biogenesis
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- 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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GOLGB1 and NDUFA1 |
golgin B1 |
NADH:ubiquinone oxidoreductase subunit A1 |
- Golgi Associated Vesicle Biogenesis
- COPI-mediated anterograde transport
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- Respiratory electron transport
- Complex I biogenesis
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- 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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GZMA and NDUFS3 |
granzyme A |
NADH:ubiquinone oxidoreductase core subunit S3 |
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- Respiratory electron transport
- Complex I biogenesis
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- 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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HMOX2 and NDUFS2 |
heme oxygenase 2 |
NADH:ubiquinone oxidoreductase core subunit S2 |
- Heme degradation
- Neutrophil degranulation
- Iron uptake and transport
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- Respiratory electron transport
- Complex I biogenesis
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- 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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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
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- Respiratory electron transport
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- Apatorsen
- Phenethyl Isothiocyanate
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- 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
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- Distal hereditary motor neuropathies (dHMN)
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- 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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HSPB2 and SDHA |
heat shock protein family B (small) member 2 |
succinate dehydrogenase complex flavoprotein subunit A |
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- Respiratory electron transport
- Citric acid cycle (TCA cycle)
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- Succinic acid
- 2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol
- Carboxin
- Thenoyltrifluoroacetone
- UBIQUINONE-1
- Ubidecarenone
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- 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
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SP110 and NDUFV2 |
SP110 nuclear body protein |
NADH:ubiquinone oxidoreductase core subunit V2 |
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- Respiratory electron transport
- Complex I biogenesis
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- 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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KCNH2 and NDUFS6 |
potassium voltage-gated channel subfamily H member 2 |
NADH:ubiquinone oxidoreductase subunit S6 |
- Voltage gated Potassium channels
- Phase 3 - rapid repolarisation
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- Respiratory electron transport
- Complex I biogenesis
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- 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
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- Long QT syndrome, including: Romano-Ward syndrome; Jervell and Lange-Nielsen syndrome (JLNS)
- Short QT syndrome
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- 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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LMNA and SFTPC |
lamin A/C |
surfactant protein C |
- XBP1(S) activates chaperone genes
- Signaling by BRAF and RAF fusions
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- 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)
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- 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
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- Pulmonary surfactant metabolism dysfunction (SMDP)
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LMNA and COX14 |
lamin A/C |
cytochrome c oxidase assembly factor COX14 |
- XBP1(S) activates chaperone genes
- Signaling by BRAF and RAF fusions
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- TP53 Regulates Metabolic Genes
- Respiratory electron transport
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- 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
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MAGEA1 and UQCRB |
MAGE family member A1 |
ubiquinol-cytochrome c reductase binding protein |
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- Respiratory electron transport
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- 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
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- 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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MAGEA4 and UQCRB |
MAGE family member A4 |
ubiquinol-cytochrome c reductase binding protein |
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- Respiratory electron transport
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- 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
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- 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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MDH2 and NDUFS1 |
malate dehydrogenase 2 |
NADH:ubiquinone oxidoreductase core subunit S1 |
- Gluconeogenesis
- Citric acid cycle (TCA cycle)
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- Respiratory electron transport
- Complex I biogenesis
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- NADH
- Citric Acid
- Xanthinol
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- 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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MT-CO3 and RAC1 |
cytochrome c oxidase III |
Rac family small GTPase 1 |
- TP53 Regulates Metabolic Genes
- Respiratory electron transport
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- 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
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- Cholic Acid
- N-Formylmethionine
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- Dextromethorphan
- Azathioprine
- Guanosine-5'-Diphosphate
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- Leber optic atrophy; Leber hereditary optic atrophy (LHON)
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NDUFA1 and TRIM55 |
NADH:ubiquinone oxidoreductase subunit A1 |
tripartite motif containing 55 |
- Respiratory electron transport
- Complex I biogenesis
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- 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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NDUFA1 and TRIM63 |
NADH:ubiquinone oxidoreductase subunit A1 |
tripartite motif containing 63 |
- Respiratory electron transport
- Complex I biogenesis
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- FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes
- Antigen processing: Ubiquitination & Proteasome degradation
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- 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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NDUFS1 and KDM1A |
NADH:ubiquinone oxidoreductase core subunit S1 |
lysine demethylase 1A |
- Respiratory electron transport
- Complex I biogenesis
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- 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
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- 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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NDUFS2 and TNFRSF14 |
NADH:ubiquinone oxidoreductase core subunit S2 |
TNF receptor superfamily member 14 |
- Respiratory electron transport
- Complex I biogenesis
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- Costimulation by the CD28 family
- Costimulation by the CD28 family
- TNFs bind their physiological receptors
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- 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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