ATXN7 - New-wiki

Novel	Interactant Symbol	Name	Associated Pathways Hide	Binding Drugs Hide	Associated Diseases Hide
Novel	CPOX	coproporphyrinogen oxidase	Heme biosynthesis		Hepatic porphyria, including: Porphyria Cutanea Tarda (PCT); VHepatoerythropoietic porphyria; Acute Intermittent Porphyria (AIP); Variegate porphyria (VP); ALA-dehydratase deficiency porphyria (ALADP); Hereditary Coproporphyria (HCP)
Novel	GNAT1	G protein subunit alpha transducin 1	PLC beta mediated events PLC beta mediated events G-protein activation Activation of the phototransduction cascade Activation of the phototransduction cascade Inactivation, recovery and regulation of the phototransduction cascade Inactivation, recovery and regulation of the phototransduction cascade G alpha (i) signalling events Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding	Cacodylic acid Guanosine-5'-Diphosphate Tetrafluoroaluminate Ion	Congenital stationary night blindness (CSNB), including: CSNB type 1 (CSNB1); CSNB type 2 (CSNB2); CSNB autosomal dominant (CSNBAD); Oguchi disease/ CSNB Oguchi type (CSNBO)
Novel	IMPDH2	inosine monophosphate dehydrogenase 2	Neutrophil degranulation Purine ribonucleoside monophosphate biosynthesis Potential therapeutics for SARS	NADH Mycophenolate mofetil Ribavirin Mycophenolic acid Mercaptopurine Selenazole-4-carboxyamide-adenine dinucleotide 6-Chloropurine Riboside, 5'-Monophosphate Inosinic Acid VX-148
Novel	PDHB	pyruvate dehydrogenase E1 subunit beta	Regulation of pyruvate dehydrogenase (PDH) complex Glyoxylate metabolism and glycine degradation Signaling by Retinoic Acid Pyruvate metabolism	Pyruvic acid NADH	Pyruvate dehydrogenase complex deficiency; X-linked Leigh syndrome
Novel	SERINC3	serine incorporator 3	Serine biosynthesis
Novel	SYNJ2	synaptojanin 2	Synthesis of PIPs at the plasma membrane Clathrin-mediated endocytosis
	ACTN1	actinin alpha 1	Platelet degranulation Syndecan interactions Nephrin family interactions Regulation of cytoskeletal remodeling and cell spreading by IPP complex components	Human calcitonin Copper
	ACTN2	actinin alpha 2	Platelet degranulation Nephrin family interactions Striated Muscle Contraction Unblocking of NMDA receptors, glutamate binding and activation Unblocking of NMDA receptors, glutamate binding and activation Ras activation upon Ca2+ influx through NMDA receptor RAF/MAP kinase cascade Assembly and cell surface presentation of NMDA receptors Negative regulation of NMDA receptor-mediated neuronal transmission Long-term potentiation
	ACTN4	actinin alpha 4	Platelet degranulation Nephrin family interactions		Nephrotic syndrome and focal segmental glomerulosclerosis
	ADAM33	ADAM metallopeptidase domain 33			Asthma
	AGRN	agrin	A tetrasaccharide linker sequence is required for GAG synthesis HS-GAG biosynthesis HS-GAG biosynthesis HS-GAG degradation Integrin cell surface interactions Non-integrin membrane-ECM interactions ECM proteoglycans ECM proteoglycans Defective B4GALT7 causes EDS, progeroid type Defective B3GAT3 causes JDSSDHD Defective EXT2 causes exostoses 2 Defective EXT1 causes exostoses 1, TRPS2 and CHDS NCAM1 interactions Defective B3GALT6 causes EDSP2 and SEMDJL1 Retinoid metabolism and transport		Congenital myasthenic syndrome
	CARD10	caspase recruitment domain family member 10
	CEP70	centrosomal protein 70	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes Loss of proteins required for interphase microtubule organization from the centrosome Recruitment of NuMA to mitotic centrosomes Anchoring of the basal body to the plasma membrane AURKA Activation by TPX2
	CEP72	centrosomal protein 72	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes Loss of proteins required for interphase microtubule organization from the centrosome Recruitment of NuMA to mitotic centrosomes Anchoring of the basal body to the plasma membrane AURKA Activation by TPX2
	COG6	component of oligomeric golgi complex 6	COPI-mediated anterograde transport Intra-Golgi traffic Retrograde transport at the Trans-Golgi-Network
	CRIM1	cysteine rich transmembrane BMP regulator 1
	CRX	cone-rod homeobox			Leber congenital amaurosis (LCR) Cone-rod dystrophy and cone dystrophy, including: Cone-rod dystrophy (CORD); Cone dystrophy (COD); Retinal cone dystrophy (RCD)
	EFEMP1	EGF containing fibulin extracellular matrix protein 1	Molecules associated with elastic fibres Molecules associated with elastic fibres		Familial flecked retina syndrome, including: Doyne honeycomb degeneration of retina (DHRD); Basal laminar drusen (BLD); Fundus albipunctatus (FA); Retinitis punctata albescens (RPA); Bietti crystalline corneoretinal dystrophy (BCD)
	EFEMP2	EGF containing fibulin extracellular matrix protein 2	Molecules associated with elastic fibres Molecules associated with elastic fibres		Cutis laxa, including: Autosomal dominant cutis laxa (ADCL); Autosomal recessive cutis laxa I (ARCL1); Autosomal recessive cutis laxa II (ARCL2); X-linked recessive cutis laxa (XRCL); Wrinkly skin syndrome
	FBN1	fibrillin 1	Degradation of the extracellular matrix Degradation of the extracellular matrix Elastic fibre formation Molecules associated with elastic fibres Molecules associated with elastic fibres Integrin cell surface interactions Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein phosphorylation		Ectopia lentis Shprintzen-Goldberg syndrome MASS phenotype Marfan syndrome, including: Marfan syndrome (MFS); Neonatal MFS; Atypically severe MFS; New variant of MFS Weill-Marchesani syndrome, including: Weill-Marchesani syndrome; Weill-Marchesani-like syndrome Geleophysic dysplasia

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