Neurofilament light polypeptide (IPR027692)
Short name: NF-L
Overlapping homologous superfamilies
- Intermediate filament protein (IPR001664)
- Neurofilament light polypeptide (IPR027692)
Neurofilament triplet proteins, NF-L, NF-M, and NF-H (light, medium, and heavy), are type IV intermediate filament proteins [PMID: 17498690]. They are essential for the radial growth of axons during development, the maintenance of axon caliber and the transmission of electrical impulses along axons [PMID: 22956720].
This entry represents NF-L. Mutations in the NF-L gene cause Charcot-Marie-Tooth disease 1F (CMT1F) [PMID: 12566280] and Charcot-Marie-Tooth disease 2E (CMT2E) [PMID: 10841809], disorders of the peripheral nervous system.
- PTHR23239:SF22 (PTHR23239:SF22)