MYOT

Description		myotilin
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GO Annotations	Cellular Component	Plasma Membrane Actin Cytoskeleton Z Disc Axon Sarcolemma Neuronal Cell Body
	Molecular Function	Actin Binding Protein Binding Axon Guidance Receptor Activity Structural Constituent Of Muscle Alpha-actinin Binding
	Biological Process	Muscle Contraction Homophilic Cell Adhesion Via Plasma Membrane Adhesion Molecules Axon Guidance Synapse Organization
Pathways
Drugs
Diseases		Distal muscular dystrophies, including: Welander distal myopathy (WDM); Tibial muscular dystrophy (TMD); Nonaka distal myopathy with rimmed vacuoles (DMRV); Miyoshi myopathy (MM); Laing myopathy (MPD1); Distal nebulin myopathy (DNM); Distal desminopathy (MFM1); alpha-B Crystallinopathy (MFM2); Distal myotilinopathy (MFM3); Distal zaspopathy (MFM4); Distal myopathy 3 (MPD2, VCPDM) Myofibrillar myopathies (MFM), including: Desminopathy (MFM1); alpha-B Crystallinopathy (MFM2); Myotilinopathy (MFM3); Zaspopathy (MFM4); Filaminopathy (MFM5); Bag3opathy Limb-girdle muscular dystrophy (LGMD)
GWAS		Atrial fibrillation ( 30061737) Heart rate ( 23583979) Severe malaria ( 29381699) Severe malaria (adjusted for sickle cell variant rs334) ( 29381699)
Interacting Genes		17 interacting genes: ACTN1 ACTN2 ACTN3 APP AXIN1 DOCK9 FLNA FLNC GPRASP2 LRP12 NME7 PDLIM3 PFDN5 ST7 TFG TRIM55 TRIM63
Entrez ID		9499
HPRD ID		04981
Ensembl ID		ENSG00000120729
Uniprot IDs		A0A0C4DFM5 B4DT68 Q9UBF9
PDB IDs		2KDG 2KKQ
Enriched GO Terms of Interacting Partners?
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