Database of mammalian genes
Home

Home Search Browse Statistics User guide FAQs Links Questions Contribute Download


Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for NEFH (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID4744
Official gene symbolNEFH
Full nameneurofilament, heavy polypeptide
Aliases,NFH,
Gene summaryNeurofilaments 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]
LocationChromosome: 22   Locus: 22q12.2
Gene position29876181 - 29887279  Map Viewer
Gene orientationplus
Gene size11099 bp
Gene sequence
OMIM ID162230