NEFL

Neurofilament, light polypeptide
Identifiers
Symbols	NEFL ; CMT1F; CMT2E; NF-L; NF68; NFL; PPP1R110
External IDs	OMIM: 162280 MGI: 97313 HomoloGene: 4487 GeneCards: NEFL Gene
Gene ontology Molecular function • structural constituent of cytoskeleton • protein binding • protein C-terminus binding • protein domain specific binding • protein binding, bridging • identical protein binding • phospholipase binding • protein heterodimerization activity Cellular component • cytoplasm • cytosol • neurofilament • axon • growth cone • TSC1-TSC2 complex • myelin sheath Biological process • microtubule cytoskeleton organization • synaptic transmission • anterograde axon cargo transport • retrograde axon cargo transport • response to toxic substance • peripheral nervous system axon regeneration • axon transport of mitochondrion • spinal cord development • hippocampus development • cerebral cortex development • regulation of axon diameter • neurofilament bundle assembly • locomotion • response to peptide hormone • negative regulation of neuron apoptotic process • intermediate filament polymerization or depolymerization • intermediate filament organization • neuron projection morphogenesis • positive regulation of axonogenesis • neuromuscular process controlling balance • protein polymerization • response to corticosterone • response to sodium arsenite • response to acrylamide Sources: Amigo / QuickGO
RNA expression pattern
File:PBB GE NEFL 221805 at tn.png
File:PBB GE NEFL 221801 x at tn.png
File:PBB GE NEFL 221916 at tn.png
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	4747	18039
Ensembl	ENSG00000277586	ENSMUSG00000022055
UniProt	P07196	P08551
RefSeq (mRNA)	NM_006158	NM_010910
RefSeq (protein)	NP_006149	NP_035040
Location (UCSC)	Chr 8: 24.95 – 24.96 Mb	Chr 14: 68.08 – 68.09 Mb
PubMed search	[1]	[2]

Neurofilament light polypeptide is a protein that in humans is encoded by the NEFL gene.

It is associated with Charcot–Marie–Tooth disease 1F and 2E.

See also

• Neurofilament

Interactions

NEFL has been shown to interact with:

• MAP2,
• Protein kinase N1, and
• TSC1.

External links

• In
• In GeneReviews
• In GeneReviews