Search Results for: TRAF6

193 interactions involving TRAF6 - TNF receptor associated factor 6 found:

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Novel Symbol Description Pathways Hide Drugs Hide Diseases Hide
Novel ARFGAP2 ARF GTPase activating protein 2
  • COPI-mediated anterograde transport
  • COPI-dependent Golgi-to-ER retrograde traffic
  • CDC42 GTPase cycle
Novel C1GALT1 core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1
  • Defective C1GALT1C1 causes TNPS
  • O-linked glycosylation of mucins
Novel EHF ETS homologous factor
Novel F2 coagulation factor II, thrombin
  • Intrinsic Pathway of Fibrin Clot Formation
  • Common Pathway of Fibrin Clot Formation
  • Gamma-carboxylation of protein precursors
  • Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus
  • Removal of aminoterminal propeptides from gamma-carboxylated proteins
  • Cell surface interactions at the vascular wall
  • Peptide ligand-binding receptors
  • Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
  • G alpha (q) signalling events
  • Thrombin signalling through proteinase activated receptors (PARs)
  • Platelet Aggregation (Plug Formation)
  • Defective factor XII causes hereditary angioedema
  • Defective F8 cleavage by thrombin
  • Regulation of Complement cascade
  • Lepirudin
  • Bivalirudin
  • Drotrecogin alfa
  • Coagulation Factor IX (Recombinant)
  • Menadione
  • Argatroban
  • Proflavine
  • Enoxaparin
  • Zinc
  • 2-{2-hydroxy-[1,1'-biphenyl]-3-yl}-1H-1,3-benzodiazole-5-carboximidamide
  • Beta-(2-Naphthyl)-Alanine
  • Hemi-Babim
  • 2-(2-hydroxy-phenyl)-3H-benzoimidazole-5-carboxamidine
  • 4-Oxo-2-Phenylmethanesulfonyl-Octahydro-Pyrrolo[1,2-a]Pyrazine-6-Carboxylic Acid [1-(N-Hydroxycarbamimidoyl)-Piperidin-4-Ylmethyl]-Amide
  • 4-Iodobenzo[B]Thiophene-2-Carboxamidine
  • CRA_8696
  • gamma-carboxy-L-glutamic acid
  • 6-Chloro-2-(2-Hydroxy-Biphenyl-3-Yl)-1h-Indole-5-Carboxamidine
  • Lysophosphotidylserine
  • N-{2,2-DIFLUORO-2-[(2R)-PIPERIDIN-2-YL]ETHYL}-2-[2-(1H-1,2,4-TRIAZOL-1-YL)BENZYL][1,3]OXAZOLO[4,5-C]PYRIDIN-4-AMINE
  • TRANS-4-(GUANIDINOMETHYL)-CYCLOHEXANE-L-YL-D-3-CYCLOHEXYLALANYL-L-AZETIDINE-2-YL-D-TYROSINYL-L-HOMOARGININAMIDE
  • 2-[3-chloro-6-[2,2-difluoro-2-(1-oxidopyridin-1-ium-2-yl)ethyl]imino-1-hydroxypyridin-2-yl]-N-[(1R)-1-(3-chlorophenyl)ethyl]acetamide
  • 1-GUANIDINO-4-(N-NITRO-BENZOYLAMINO-L-LEUCYL-L-PROLYLAMINO)BUTANE
  • 1-GUANIDINO-4-(N-PHENYLMETHANESULFONYL-L-LEUCYL-L-PROLYLAMINO)BUTANE
  • Suramin
  • Ximelagatran
  • Flovagatran
  • Thrombomodulin Alfa
  • Human C1-esterase inhibitor
  • Dabigatran etexilate
  • methyl L-phenylalaninate
  • [(2R)-1-[(2S)-2-[[(2S,3S)-1-Chloro-6-(diaminomethylideneamino)-2-hydroxyhexan-3-yl]carbamoyl]pyrrolidin-1-yl]-1-oxo-3-phenylpropan-2-yl]azanium
  • (S)-N-(4-carbamimidoylbenzyl)-1-(2-(cyclopentylamino)ethanoyl)pyrrolidine-2-carboxamide
  • (S)-N-(4-carbamimidoylbenzyl)-1-(2-(cyclohexylamino)ethanoyl)pyrrolidine-2-carboxamide
  • N-cycloheptylglycyl-N-(4-carbamimidoylbenzyl)-L-prolinamide
  • N-cyclooctylglycyl-N-(4-carbamimidoylbenzyl)-L-prolinamide
  • N-ALLYL-5-AMIDINOAMINOOXY-PROPYLOXY-3-CHLORO-N-CYCLOPENTYLBENZAMIDE
  • 6-(2-HYDROXY-CYCLOPENTYL)-7-OXO-HEPTANAMIDINE
  • 6-CARBAMIMIDOYL-2-[2-HYDROXY-6-(4-HYDROXY-PHENYL)-INDAN-1-YL]-HEXANOIC ACID
  • 6-CARBAMIMIDOYL-2-[2-HYDROXY-5-(3-METHOXY-PHENYL)-INDAN-1-YL]-HEXANOIC ACID
  • N-(3-chlorobenzyl)-1-(4-methylpentanoyl)-L-prolinamide
  • 1-[2-AMINO-2-CYCLOHEXYL-ACETYL]-PYRROLIDINE-3-CARBOXYLIC ACID 5-CHLORO-2-(2-ETHYLCARBAMOYL-ETHOXY)-BENZYLAMIDE
  • 1-[(2R)-2-aminobutanoyl]-N-(3-chlorobenzyl)-L-prolinamide
  • D-leucyl-N-(3-chlorobenzyl)-L-prolinamide
  • D-phenylalanyl-N-(3-chlorobenzyl)-L-prolinamide
  • 1-butanoyl-N-(4-carbamimidoylbenzyl)-L-prolinamide
  • N-(4-carbamimidoylbenzyl)-1-(4-methylpentanoyl)-L-prolinamide
  • N-(4-carbamimidoylbenzyl)-1-(3-phenylpropanoyl)-L-prolinamide
  • 1-[(2R)-2-aminobutanoyl]-N-(4-carbamimidoylbenzyl)-L-prolinamide
  • D-leucyl-N-(4-carbamimidoylbenzyl)-L-prolinamide
  • D-phenylalanyl-N-{4-[amino(iminio)methyl]benzyl}-L-prolinamide
  • (3R)-8-(dioxidosulfanyl)-3-methyl-1,2,3,4-tetrahydroquinoline
  • D-phenylalanyl-N-(3-fluorobenzyl)-L-prolinamide
  • beta-phenyl-D-phenylalanyl-N-propyl-L-prolinamide
  • (S)-N-(4-carbamimidoylbenzyl)-1-(2-(cyclopentyloxy)ethanoyl)pyrrolidine-2-carboxamide
  • (S)-N-(4-carbamimidoylbenzyl)-1-(2-(cyclohexyloxy)ethanoyl)pyrrolidine-2-carboxamide
  • (S)-N-(4-carbamimidoylbenzyl)-1-(3-cyclopentylpropanoyl)pyrrolidine-2-carboxamide
  • 2-[2-(4-Chloro-Phenylsulfanyl)-Acetylamino]-3-(4-Guanidino-Phenyl)-Propionamide
  • 3-Carbamimidamido-1,1-diphenylurea
  • N7-BUTYL-N2-(5-CHLORO-2-METHYLPHENYL)-5-METHYL[1,2,4]TRIAZOLO[1,5-A]PYRIMIDINE-2,7-DIAMINE
  • (S)-N-(4-carbamimidoylbenzyl)-1-(3-cyclohexylpropanoyl)pyrrolidine-2-carboxamide
  • D-phenylalanyl-N-(3-methylbenzyl)-L-prolinamide
  • D-phenylalanyl-N-benzyl-L-prolinamide
  • N-(5-CHLORO-BENZO[B]THIOPHEN-3-YLMETHYL)-2-[6-CHLORO-OXO-3-(2-PYRIDIN-2-YL-ETHYLAMINO)-2H-PYRAZIN-1-YL]-ACETAMIDE
  • 3-cyclohexyl-D-alanyl-N-(3-chlorobenzyl)-L-prolinamide
  • (2R)-2-(5-CHLORO-2-THIENYL)-N-{(3S)-1-[(1S)-1-METHYL-2-MORPHOLIN-4-YL-2-OXOETHYL]-2-OXOPYRROLIDIN-3-YL}PROPENE-1-SULFONAMIDE
  • 2-(5-CHLORO-2-THIENYL)-N-{(3S)-1-[(1S)-1-METHYL-2-MORPHOLIN-4-YL-2-OXOETHYL]-2-OXOPYRROLIDIN-3-YL}ETHANESULFONAMIDE
  • GW-813893
  • N-ETHYL-N-ISOPROPYL-3-METHYL-5-{[(2S)-2-(PYRIDIN-4-YLAMINO)PROPYL]OXY}BENZAMIDE
  • 4-(2,5-DIAMINO-5-HYDROXY-PENTYL)-PHENOL
  • 2-[N'-(4-AMINO-BUTYL)-HYDRAZINOCARBONYL]-PYRROLIDINE-1-CARBOXYLIC ACID BENZYL ESTER
  • 5-(DIMETHYLAMINO)-1-NAPHTHALENESULFONIC ACID(DANSYL ACID)
  • 1-ETHOXYCARBONYL-D-PHE-PRO-2(4-AMINOBUTYL)HYDRAZINE
  • 4-TERT-BUTYLBENZENESULFONIC ACID
  • 3-AMINO-3-BENZYL-9-CARBOXAMIDE[4.3.0]BICYCLO-1,6-DIAZANONAN-2-ONE
  • 4-(5-BENZENESULFONYLAMINO-1-METHYL-1H-BENZOIMIDAZOL-2-YLMETHYL)-BENZAMIDINE
  • 1-(2-{[(6-amino-2-methylpyridin-3-yl)methyl]amino}ethyl)-6-chloro-3-[(2,2-difluoro-2-pyridin-2-ylethyl)amino]-1,4-dihydropyrazin-2-ol
  • (3Z,6S)-6-Chloro-1-(2-{[(5-chloro-1-benzothiophen-3-yl)methyl]amino}ethyl)-3-({2-[(2R)-2-piperidinyl]ethyl}imino)-2-piperazinol
  • N-[(2R,3S)-3-AMINO-2-HYDROXY-4-PHENYLBUTYL]NAPHTHALENE-2-SULFONAMIDE
  • N-[(2R,3S)-3-AMINO-2-HYDROXY-4-PHENYLBUTYL]-4-METHOXY-2,3,6-TRIMETHYLBENZENESULFONAMIDE
  • 2-(6-Chloro-3-{[2,2-difluoro-2-(2-pyridinyl)ethyl]amino}-2-oxo-1(2H)-pyrazinyl)-N-[(2-fluoro-6-pyridinyl)methyl]acetamide
  • 2-(6-CHLORO-3-{[2,2-DIFLUORO-2-(2-PYRIDINYL)ETHYL]AMINO}-2-OXO-1(2H)-PYRAZINYL)-N-[(2-FLUORO-3-METHYL-6-PYRIDINYL)METHYL]ACETAMIDE
  • 2-(6-CHLORO-3-{[2,2-DIFLUORO-2-(1-OXIDO-2-PYRIDINYL)ETHYL]AMINO}-2-OXO-1(2H)-PYRAZINYL)-N-[(2-FLUOROPHENYL)METHYL]ACETAMIDE
  • 3-(7-DIAMINOMETHYL-NAPHTHALEN-2-YL)-PROPIONIC ACID ETHYL ESTER
  • AC-(D)Phe-pro-borolys-OH
  • AC-(D)PHE-PRO-BOROHOMOLYS-OH
  • AC-(D)PHE-PRO-BOROHOMOORNITHINE-OH
  • N-[2-(carbamimidamidooxy)ethyl]-2-{6-cyano-3-[(2,2-difluoro-2-pyridin-2-ylethyl)amino]-2-fluorophenyl}acetamide
  • 4-Hydroxyphenylpyruvic acid
  • 4-(1R,3AS,4R,8AS,8BR)-[1-DIFLUOROMETHYL-2-(4-FLUOROBENZYL)-3-OXODECAHYDROPYRROLO[3,4-A]PYRROLIZIN-4-YL]BENZAMIDINE
  • (3ASR,4RS,8ASR,8BRS)-4-(2-(4-FLUOROBENZYL)-1,3-DIOXODEACAHYDROPYRROLO[3,4-A] PYRROLIZIN-4-YL)BENZAMIDINE
  • 4-({[4-(3-METHYLBENZOYL)PYRIDIN-2-YL]AMINO}METHYL)BENZENECARBOXIMIDAMIDE
  • 1-(HYDROXYMETHYLENEAMINO)-8-HYDROXY-OCTANE
  • [[CYCLOHEXANESULFONYL-GLYCYL]-3[PYRIDIN-4-YL-AMINOMETHYL]ALANYL]PIPERIDINE
  • N-{3-METHYL-5-[2-(PYRIDIN-4-YLAMINO)-ETHOXY]-PHENYL}-BENZENESULFONAMIDE
  • N-[2-({[amino(imino)methyl]amino}oxy)ethyl]-2-{6-chloro-3-[(2,2-difluoro-2-phenylethyl)amino]-2-fluorophenyl}acetamide
  • 4-[3-(4-CHLOROPHENYL)-1H-PYRAZOL-5-YL]PIPERIDINE
  • 3-(4-CHLOROPHENYL)-5-(METHYLTHIO)-4H-1,2,4-TRIAZOLE
  • {(2S)-1-[N-(tert-butoxycarbonyl)glycyl]pyrrolidin-2-yl}methyl (3-chlorophenyl)acetate
  • N-Methylphenylalanyl-N-[(trans-4-aminocyclohexyl)methyl]-L-prolinamide
  • 2-Naphthalenesulfonic acid
  • [PHENYLALANINYL-PROLINYL]-[2-(PYRIDIN-4-YLAMINO)-ETHYL]-AMINE
  • 4-[(3AS,4R,7R,8AS,8BR)-2-(1,3-BENZODIOXOL-5-YLMETHYL)-7-HYDROXY-1,3-DIOXODECAHYDROPYRROLO[3,4-A]PYRROLIZIN-4-YL]BENZENECARBOXIMIDAMIDE
  • 1-[(4S)-4-amino-5-(1,3-benzothiazol-2-yl)-5-oxopentyl]guanidine
  • Turoctocog alfa
  • Copper
  • Conestat alfa
  • Kappadione
  • Antithrombin Alfa
  • Nafamostat
  • Gabexate
  • Anti-inhibitor coagulant complex
  • Coagulation Factor IX Human
  • Zinc acetate
  • Turoctocog alfa pegol
  • Inherited thrombophilia
Novel IFTAP intraflagellar transport associated protein
Novel LRRC4C leucine rich repeat containing 4C
Novel NTSR1 neurotensin receptor 1
  • Peptide ligand-binding receptors
  • G alpha (q) signalling events
Novel RPP21 ribonuclease P subunit p21
  • tRNA processing in the nucleus
  • Major pathway of rRNA processing in the nucleolus and cytosol
Novel TIMM8A translocase of inner mitochondrial membrane 8A
  • Mitochondrial protein import
  • Mohr-Tranebjaerg syndrome
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
  • Regulation of actin dynamics for phagocytic cup formation
  • Role of ABL in ROBO-SLIT signaling
  • Role of ABL in ROBO-SLIT signaling
  • Myogenesis
  • Myogenesis
  • RHO GTPases Activate WASPs and WAVEs
  • HDR through Single Strand Annealing (SSA)
  • Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
  • Cyclin D associated events in G1
  • RUNX1 regulates transcription of genes involved in differentiation of HSCs
  • RUNX2 regulates osteoblast differentiation
  • FCGR3A-mediated phagocytosis
  • Factors involved in megakaryocyte development and platelet production
  • MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis
  • Turbulent (oscillatory, disturbed) flow shear stress activates signaling by PIEZO1 and integrins in endothelial cells
  • ATP
  • Imatinib
  • Dasatinib
  • N-[4-Methyl-3-[[4-(3-Pyridinyl)-2-Pyrimidinyl]Amino]Phenyl]-3-Pyridinecarboxamide
  • Nilotinib
  • XL228
  • Bosutinib
  • 2-{[(6-OXO-1,6-DIHYDROPYRIDIN-3-YL)METHYL]AMINO}-N-[4-PROPYL-3-(TRIFLUOROMETHYL)PHENYL]BENZAMIDE
  • 1-[4-(PYRIDIN-4-YLOXY)PHENYL]-3-[3-(TRIFLUOROMETHYL)PHENYL]UREA
  • Myristic acid
  • PD-166326
  • 5-[3-(2-METHOXYPHENYL)-1H-PYRROLO[2,3-B]PYRIDIN-5-YL]-N,N-DIMETHYLPYRIDINE-3-CARBOXAMIDE
  • 2-amino-5-[3-(1-ethyl-1H-pyrazol-5-yl)-1H-pyrrolo[2,3-b]pyridin-5-yl]-N,N-dimethylbenzamide
  • Regorafenib
  • Ponatinib
  • Fostamatinib
  • Brigatinib
  • Radotinib
  • Asciminib
  • Umbralisib
  • Acute lymphoblastic leukemia (ALL) (precursor B lymphoblastic leukemia)
  • Chronic myeloid leukemia (CML)
AKT1 AKT serine/threonine kinase 1
  • Activation of BAD and translocation to mitochondria
  • PIP3 activates AKT signaling
  • PIP3 activates AKT signaling
  • Downregulation of ERBB2:ERBB3 signaling
  • Translocation of SLC2A4 (GLUT4) to the plasma membrane
  • Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation
  • MTOR signalling
  • AKT phosphorylates targets in the cytosol
  • AKT phosphorylates targets in the cytosol
  • AKT phosphorylates targets in the nucleus
  • Negative regulation of the PI3K/AKT network
  • eNOS activation
  • AKT-mediated inactivation of FOXO1A
  • Integrin signaling
  • Deactivation of the beta-catenin transactivating complex
  • CD28 dependent PI3K/Akt signaling
  • Co-inhibition by CTLA4
  • G beta:gamma signalling through PI3Kgamma
  • Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA
  • KSRP (KHSRP) binds and destabilizes mRNA
  • VEGFR2 mediated vascular permeability
  • TP53 Regulates Metabolic Genes
  • Constitutive Signaling by AKT1 E17K in Cancer
  • Interleukin-4 and Interleukin-13 signaling
  • Regulation of TP53 Degradation
  • Regulation of TP53 Activity through Acetylation
  • Regulation of TP53 Activity through Association with Co-factors
  • PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
  • Cyclin E associated events during G1/S transition
  • Cyclin A:Cdk2-associated events at S phase entry
  • PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1
  • RAB GEFs exchange GTP for GDP on RABs
  • RUNX2 regulates genes involved in cell migration
  • Regulation of PTEN stability and activity
  • Extra-nuclear estrogen signaling
  • Negative regulation of NOTCH4 signaling
  • FLT3 Signaling
  • Regulation of localization of FOXO transcription factors
  • Estrogen-dependent nuclear events downstream of ESR-membrane signaling
  • KEAP1-NFE2L2 pathway
  • SARS-CoV-2 targets host intracellular signalling and regulatory pathways
  • Mitochondrial unfolded protein response (UPRmt)
  • High laminar flow shear stress activates signaling by PIEZO1 and PECAM1:CDH5:KDR in endothelial cells
  • High laminar flow shear stress activates signaling by PIEZO1 and PECAM1:CDH5:KDR in endothelial cells
  • Mechanical load activates signaling by PIEZO1 and integrins in osteocytes
  • ATP
  • Arsenic trioxide
  • Genistein
  • Inositol 1,3,4,5-Tetrakisphosphate
  • Resveratrol
  • Archexin
  • Enzastaurin
  • Perifosine
  • N-[2-(5-methyl-4H-1,2,4-triazol-3-yl)phenyl]-7H-pyrrolo[2,3-d]pyrimidin-4-amine
  • 5-(5-chloro-7H-pyrrolo[2,3-d]pyrimidin-4-yl)-4,5,6,7-tetrahydro-1H-imidazo[4,5-c]pyridine
  • PTEN hamartoma tumor syndrome (PHTS), including: Cowden syndrome; Bannayan-Riley-Ruvalcaba syndrome; Proteus syndrome; Proteus-like syndrome
APP amyloid beta precursor protein
  • Platelet degranulation
  • ECM proteoglycans
  • Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
  • G alpha (q) signalling events
  • G alpha (i) signalling events
  • Lysosome Vesicle Biogenesis
  • Formyl peptide receptors bind formyl peptides and many other ligands
  • TAK1-dependent IKK and NF-kappa-B activation
  • The NLRP3 inflammasome
  • Advanced glycosylation endproduct receptor signaling
  • Advanced glycosylation endproduct receptor signaling
  • Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models
  • Post-translational protein phosphorylation
  • TRAF6 mediated NF-kB activation
  • Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
  • Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
  • Purinergic signaling in leishmaniasis infection
  • Amyloid fiber formation
  • Deferoxamine
  • Aluminium
  • Zinc
  • L-methionine (R)-S-oxide
  • Resveratrol
  • Tromethamine
  • Phenserine
  • Tetrathiomolybdate
  • CAD106
  • Mito-4509
  • Edonerpic
  • Dimercaprol
  • Copper
  • Florbetaben (18F)
  • Florbetapir (18F)
  • Flutemetamol (18F)
  • Gantenerumab
  • Aducanumab
  • Zinc acetate
  • Aluminium phosphate
  • Aluminum acetate
  • Zinc chloride
  • Zinc sulfate, unspecified form
  • Lecanemab
  • Alzheimer's disease (AD)
ATM ATM serine/threonine kinase
  • DNA Damage/Telomere Stress Induced Senescence
  • Regulation of HSF1-mediated heat shock response
  • Autodegradation of the E3 ubiquitin ligase COP1
  • 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
  • TP53 Regulates Transcription of DNA Repair Genes
  • TP53 Regulates Transcription of Genes Involved in Cytochrome C Release
  • TP53 Regulates Transcription of Caspase Activators and Caspases
  • Regulation of TP53 Activity through Phosphorylation
  • Regulation of TP53 Degradation
  • Regulation of TP53 Activity through Methylation
  • G2/M DNA damage checkpoint
  • Stabilization of p53
  • Meiotic recombination
  • Pexophagy
  • Defective homologous recombination repair (HRR) due to BRCA1 loss of function
  • Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function
  • Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function
  • Impaired BRCA2 binding to RAD51
  • Impaired BRCA2 binding to PALB2
  • Caffeine
  • Ataxia telangiectasia (AT); Louis-Bar syndrome; Boder-Sedgwick syndrome
  • Chronic lymphocytic leukemia (CLL)
  • Ataxia with ocular apraxia (AOA), including: Ataxia telangiectasia (AT); Ataxia telangiectasia like disorder (ATLD); Ataxia oculomotor apraxia type 1 (AOA1); Ataxia oculomotor apraxia type 2 (AOA2)
  • DNA repair defects, including the following six diseases: Ataxia telangiectasia (AT); Ataxia-talangiectasia-like syndrome; Nijmegen syndrome; DNA ligase I deficiency; DNA ligase IV deficiency; Bloom's syndrome
ATP6V1E1 ATPase H+ transporting V1 subunit E1
  • ROS and RNS production in phagocytes
  • Insulin receptor recycling
  • Transferrin endocytosis and recycling
  • Amino acids regulate mTORC1
  • Ion channel transport
  • Regulation of MITF-M-dependent genes involved in lysosome biogenesis and autophagy
  • Tiludronic acid
ATXN3 ataxin 3
  • Josephin domain DUBs
  • FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes
  • Spinocerebellar ataxia (SCA); Machado-Joseph disease (SCA3)
BANK1 B cell scaffold protein with ankyrin repeats 1
BCL3 BCL3 transcription coactivator
BEX3 brain expressed X-linked 3
  • NADE modulates death signalling
BMPR1B bone morphogenetic protein receptor type 1B
  • Signaling by BMP
  • Fostamatinib
  • Acromesomelic dysplasia with genital anomalies
  • Brachydactyly, including: type A; type B; type D; type E
BRSK2 BR serine/threonine kinase 2

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