NEFH Gene Summary [Human]
Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the heavy neurofilament protein. This protein is commonly used as a biomarker of neuronal damage and susceptibility to amyotrophic lateral sclerosis (ALS) has been associated with mutations in this gene. [provided by RefSeq, Oct 2008]
Details
| Type | Protein Coding |
| Official Symbol | NEFH |
| Official Name | neurofilament heavy [Source:HGNC Symbol;Acc:HGNC:7737] |
| Ensembl ID | ENSG00000100285 |
| Bio databases IDs | |
| Aliases | neurofilament heavy, neurofilament heavy chain |
| Synonyms | CMT2CC, mKIAA0845, N52, Neurofilament H, neurofilament heavy chain, neurofilament, heavy polypeptide, NF200, Nf220, NF-H, SMI32 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human NEFH often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Family of unknown function (DUF5585)
- protein kinase binding
- protein binding activity, bridging
- protein binding
- Repeat of unknown function (DUF1388)
- kinesin binding
- microtubule binding
- binding protein
- structural constituent of cytoskeleton
- Lys-Ser-Pro repeat
- Domain of unknown function (DUF4775)
- tail domain
- Intermediate filament protein
- structural molecule
- rod domain
- toxin binding
Pathways
Biological processes and signaling networks where the NEFH gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- amyotrophic lateral sclerosis
- weight loss
- atresia
- sporadic amyotrophic lateral sclerosis
- androgenic alopecia
- motor neuron disease
- Alzheimer disease
- hereditary disorder
- paralysis
- susceptibility to amyotrophic lateral sclerosis
role in cell
- survival
- number
- formation
- accumulation
- quantity
- atrophy
- assembly
- degeneration
- dissociation
- density
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- myelin enriched fraction
- soluble fraction
- postsynaptic density (PSD) fractions
- intermediate filament cytoskeleton
- cytoskeleton
- intracellular space
- somatodendritic region
- cellular membrane
- Nucleus
- intermediate filaments
- presynaptic membrane
- postsynaptic membrane
- neurofilaments
- growth cone
- neurites
- dendrite initial segments
- synapse
- membrane processes
- perikaryon
- axons
- dendrites
- postsynaptic density
- apical processes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NEFH gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- neurofilament bundle assembly
- neurofilament cytoskeleton organization
- axonogenesis
- cell projection assembly
- intermediate filament bundle assembly
- microtubule cytoskeleton organization
- peripheral nervous system neuron axonogenesis
Cellular Component
Where in the cell the gene product is active
- postsynaptic density
- cytoskeleton
- cytoplasm
- neurofilament
- axon
Molecular Function
What the gene product does at the molecular level
- protein kinase binding
- protein binding
- kinesin binding
- structural constituent of cytoskeleton
- dynein complex binding
- protein binding, bridging
- microtubule binding