Gene information for NEFH (Homo sapiens)
(Information is obtained from NCBI Gene database) |
Entrez gene ID | 4744 |
Official gene symbol | NEFH |
Full name | neurofilament, heavy polypeptide |
Aliases | ,NFH, |
Gene summary | 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] |
Location | Chromosome: 22 Locus: |
Gene position | 29876181 - 29887279 Map Viewer |
OMIM ID | 162230 |