NEFL |
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Ідентифікатори |
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Символи | NEFL, CMT1F, CMT2E, NF-L, NF68, NFL, PPP1R110, neurofilament, light polypeptide, neurofilament light, CMTDIG, neurofilament light chain |
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Зовнішні ІД | OMIM: 162280 MGI: 97313 HomoloGene: 4487 GeneCards: NEFL |
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Пов'язані генетичні захворювання |
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Charcot-Marie-Tooth disease type 1F, Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease dominant intermediate G[1] |
Онтологія гена |
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Молекулярна функція | • protein-macromolecule adaptor activity • structural molecule activity • structural constituent of cytoskeleton • protein C-terminus binding • GO:0001948, GO:0016582 protein binding • identical protein binding • protein heterodimerization activity • protein domain specific binding • phospholipase binding • structural constituent of postsynaptic intermediate filament cytoskeleton |
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Клітинна компонента | • цитоплазма • гіалоплазма • neurofilament • growth cone • myelin sheath • TSC1-TSC2 complex • аксон • neuron projection • Проміжні філаменти • axon cytoplasm • neuromuscular junction • Schaffer collateral - CA1 synapse • cholinergic synapse • postsynaptic intermediate filament cytoskeleton • presynaptic intermediate filament cytoskeleton |
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Біологічний процес | • GO:1904089 negative regulation of neuron apoptotic process • retrograde axonal transport • intermediate filament organization • response to sodium arsenite • neuron projection morphogenesis • protein polymerization • intermediate filament bundle assembly • neuromuscular process controlling balance • neurofilament bundle assembly • response to corticosterone • response to peptide hormone • response to organic substance • positive regulation of axonogenesis • MAPK cascade • anterograde axonal transport • axonal transport of mitochondrion • regulation of axon diameter • peripheral nervous system axon regeneration • locomotion • response to acrylamide • spinal cord development • cerebral cortex development • intermediate filament polymerization or depolymerization • neurofilament cytoskeleton organization • hippocampus development • response to toxic substance • microtubule cytoskeleton organization • axon development • synapse maturation • postsynaptic intermediate filament cytoskeleton organization • regulation of NMDA receptor activity |
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Джерела:Amigo / QuickGO | |
Шаблон експресії |
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Більше даних |
Ортологи |
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Види | Людина | Миша |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (мРНК) | | |
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RefSeq (білок) | | |
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Локус (UCSC) | Хр. 8: 24.95 – 24.96 Mb | Хр. 14: 68.32 – 68.33 Mb |
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PubMed search | [2] | [3] |
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Вікідані |
Див./Ред. для людей | Див./Ред. для мишей |
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