Entity Details

Primary name NEFH
Entity type gene
Source Source Link

Details

PrimaryID4744
RefseqGeneNG_008404
SymbolNEFH
Nameneurofilament heavy chain
Chromosome22
Location22q12.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1989-11-29
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsNFH_HUMAN

GO terms

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GOName
GO:0000226 microtubule cytoskeleton organization
GO:0005200 structural constituent of cytoskeleton
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0005883 neurofilament
GO:0007409 axonogenesis
GO:0008017 microtubule binding
GO:0014069 postsynaptic density
GO:0019894 kinesin binding
GO:0019901 protein kinase binding
GO:0030031 cell projection assembly
GO:0030424 axon
GO:0030674 protein-macromolecule adaptor activity
GO:0033693 neurofilament bundle assembly
GO:0048936 peripheral nervous system neuron axonogenesis
GO:0060052 neurofilament cytoskeleton organization
GO:0061564 axon development
GO:0070840 dynein complex binding
GO:0097418 neurofibrillary tangle
GO:0098685 Schaffer collateral - CA1 synapse
GO:0099160 postsynaptic intermediate filament cytoskeleton
GO:0099184 structural constituent of postsynaptic intermediate filament cytoskeleton
GO:1902513 regulation of organelle transport along microtubule
GO:1990830 cellular response to leukemia inhibitory factor

Diseases

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Disease IDSourceNameDescription
616924 OMIMCharcot-Marie-Tooth disease 2CC (CMT2CC)An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. The disease is caused by variants affecting the gene represented in this entry.
105400 OMIMAmyotrophic lateral sclerosis 1 (ALS1)A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. Disease susceptibility is associated with variants affecting the gene represented in this entry.