neurofilament, heavy polypeptide

Symbol

NEFH (may also be known as: None)

Organism

Human

Description

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]

Orthologs

SymbolSpecies
Nefh Mus musculus
Nefh Rattus norvegicus

Links to external resources

Changes associated with this gene

Identifier Name Type Tissues Organism Gene Data Actions
DAA2744 Hypermethylation of NEFH is positively correlated with age Molecular blood Human NEFH —

GO Terms

GO IDGO TermGO Category
GO:0000226 microtubule cytoskeleton organization biological_process
GO:0007399 nervous system development biological_process
GO:0008219 cell death biological_process
GO:0045110 intermediate filament bundle assembly biological_process
GO:0060052 neurofilament cytoskeleton organization biological_process
GO:0005739 mitochondrion cellular_component
GO:0005882 intermediate filament cellular_component
GO:0005883 neurofilament cellular_component
GO:0030424 axon cellular_component
GO:0003674 molecular_function molecular_function