| Gene Symbol |
NEFH
|
| Entrez Gene |
4744
|
| Alt Symbol |
NFH
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
neurofilament, heavy polypeptide
|
| Other Description |
200 kDa neurofilament protein|NF-H|neurofilament heavy polypeptide|neurofilament triplet H protein|neurofilament, heavy polypeptide 200kDa
|
| Swissprots |
Q9UQ14 Q9UJS7 Q96HF8 B4DYY4 P12036
|
| Accessions |
CAA33366 EAW59804 EAW59805 EAW59806 P12036 AA908662 AB020652 BAA74868 AF203032 AAF13722 AK302660 BAG63896 BC008648 AAH08648 BC073969 AAH73969 BE223015 BE782873 BG470629 BM686053 S66488 AAB28609 XM_011530200 XP_011528502 NM_021076 NP_066554
|
| Function |
Neurofilaments usually contain three intermediate filament proteins: L, M, and H which are involved in the maintenance of neuronal caliber. NF-H has an important function in mature axons that is not subserved by the two smaller NF proteins.
|
| Top Pathways |
Amyotrophic lateral sclerosis (ALS)
|