Neurofilament, Light Polypeptide (NEFL)

CMT1F; CMT2E; NF-L; NF68; NFL; 68 kDa neurofilament protein; Neurofilament triplet L protein

SPN	S743
HGNC	7739
MGI	97313
RGD	621458
UniProt	P07196

Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and they functionally maintain the neuronal caliber. They may also play a role in intracellular transport to axons and dendrites.

This gene encodes the light chain neurofilament protein. Mutations in this gene cause Charcot-Marie-Tooth disease types 1F (CMT1F) and 2E (CMT2E), disorders of the peripheral nervous system that are characterized by distinct neuropathies. A pseudogene has been identified on chromosome Y.The neurofilament subunits occupy the class IV family of intermediate filaments, and was originally thought to contain only three proteins named NF-L, NF-M and NF-H.

Reference

"The structure of a human neurofilament gene (NF-L): a unique exon-intron organization in the intermediate filament gene family."
Biochim. Biophys. Acta 909:10-20(1987) [PubMed] [Europe PMC] [Abstract]

"Effects of Charcot-Marie-Tooth-linked mutations of the neurofilament light subunit on intermediate filament formation."
J. Cell Sci. 115:4937-4946(2002) [PubMed] [Europe PMC] [Abstract]

"DNA sequence and analysis of human chromosome 8."
Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"AP-1 and Krox-24 transcription factors activate the neurofilament light gene promoter in P19 embryonal carcinoma cells."
Cell Growth Differ. 5:187-196(1994) [PubMed] [Europe PMC] [Abstract]