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-T... See more...

Aliases for NEFL Gene

Aliases for NEFL Gene

  • Neurofilament Light 2 3 5
  • NF68 2 3 4
  • NFL 2 3 4
  • Protein Phosphatase 1, Regulatory Subunit 110 2 3
  • Neurofilament, Light Polypeptide 68kDa 2 3
  • Neurofilament Light Polypeptide 3 4
  • Neurofilament Triplet L Protein 3 4
  • PPP1R110 2 3
  • CMT1F 2 3
  • CMT2E 2 3
  • NF-L 3 4
  • Light Molecular Weight Neurofilament Protein 3
  • Neurofilament Protein, Light Chain 3
  • Neurofilament, Light Polypeptide 2
  • 68 KDa Neurofilament Protein 4
  • Neurofilament Subunit NF-L 3
  • CMTDIG 3
  • NEFL 5

External Ids for NEFL Gene

Previous GeneCards Identifiers for NEFL Gene

  • GC08M024543
  • GC08M025163
  • GC08M024629
  • GC08M024832
  • GC08M024866
  • GC08M023353
  • GC08M024808

Summaries for NEFL Gene

Entrez Gene Summary for NEFL Gene

  • 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. [provided by RefSeq, Oct 2008]

GeneCards Summary for NEFL Gene

NEFL (Neurofilament Light) is a Protein Coding gene. Diseases associated with NEFL include Charcot-Marie-Tooth Disease, Axonal, Type 2E and Charcot-Marie-Tooth Disease, Demyelinating, Type 1F. Among its related pathways are Neuroscience and Association Between Physico-Chemical Features and Toxicity Associated Pathways. Gene Ontology (GO) annotations related to this gene include identical protein binding and protein domain specific binding. An important paralog of this gene is NEFM.

UniProtKB/Swiss-Prot Summary for NEFL Gene

  • Neurofilaments usually contain three intermediate filament proteins: NEFL, NEFM, and NEFH which are involved in the maintenance of neuronal caliber. May additionally cooperate with the neuronal intermediate filament proteins PRPH and INA to form neuronal filamentous networks (By similarity).

Gene Wiki entry for NEFL Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NEFL Gene

Genomics for NEFL Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NEFL Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J024955 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 605.4 +0.6 620 3.4 BRCA1 TEAD4 PRDM10 ZNF629 ZNF692 PRDM1 ZIC2 ZSCAN4 POLR2A PATZ1 NEFL ENSG00000272157 lnc-NEFL-2 piR-44906 NEFM ENSG00000253535
GH08J024941 Promoter/Enhancer 1.2 FANTOM5 ENCODE CraniofacialAtlas 6.6 +14.7 14688 1.2 POLR2A SP2 YY1 WT1 ZFHX2 ZNF335 ZNF513 ZNF366 GLIS1 ZNF398 ENSG00000272163 NEFM ENSG00000253535 NEFL piR-60048
GH08J024766 Enhancer 0.3 FANTOM5 CraniofacialAtlas 2.3 +189.7 189733 0.2 NEFL NEFM RF00994-1056 piR-33804-108 ENSG00000253535 ENSG00000272163 ADAM7
GH08J024912 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 0.3 +42.3 42320 3.6 CTCF REST POLR2A EZH2 ZNF600 ZNF341 ZNF561 RAD21 USF1 ZBTB26 NEFM piR-57133-573 ENSG00000272163 NEFL
GH08J024998 Promoter/Enhancer 1.5 FANTOM5 ENCODE CraniofacialAtlas 0.3 -43.4 -43379 3.7 CTCF PRDM10 ZNF629 IKZF1 ZNF692 JUND PRDM1 ZIC2 ZSCAN4 POLR2A ENSG00000288055 NEFM ENSG00000253535 ENSG00000253832 LOC105379330 NEFL DOCK5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NEFL on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NEFL

Top Transcription factor binding sites by QIAGEN in the NEFL gene promoter:
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alphaA
  • HEN1
  • IRF-7A
  • MyoD
  • POU2F1
  • POU2F1a

Genomic Locations for NEFL Gene

Genomic Locations for NEFL Gene
chr8:24,950,955-24,956,721
(GRCh38/hg38)
Size:
5,767 bases
Orientation:
Minus strand
chr8:24,808,468-24,814,624
(GRCh37/hg19)
Size:
6,157 bases
Orientation:
Minus strand

Genomic View for NEFL Gene

Genes around NEFL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NEFL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NEFL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NEFL Gene

Proteins for NEFL Gene

  • Protein details for NEFL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P07196-NFL_HUMAN
    Recommended name:
    Neurofilament light polypeptide
    Protein Accession:
    P07196
    Secondary Accessions:
    • B9ZVN2
    • Q16154
    • Q8IU72

    Protein attributes for NEFL Gene

    Size:
    543 amino acids
    Molecular mass:
    61517 Da
    Quaternary structure:
    • Forms homodimers (in vitro) (By similarity). Forms heterodimers with NEFH or NEFM; which can further hetero-oligomerize (in vitro) (By similarity). Forms heterodimers with INA (in vitro) (By similarity). Interacts with ARHGEF28. Interacts with TRIM2.
    Miscellaneous:
    • NF-L is the most abundant of the three neurofilament proteins and, like the other nonepithelial intermediate filament proteins, it can form homopolymeric 10-nm filaments.

neXtProt entry for NEFL Gene

Post-translational modifications for NEFL Gene

  • O-glycosylated.
  • Phosphorylated in the head and rod regions by the PKC kinase PKN1, leading to the inhibition of polymerization.
  • Ubiquitinated in the presence of TRIM2 and UBE2D1.
  • Glycosylation at Thr21 and Ser27
  • Ubiquitination at Lys15, Lys271, and Lys370
  • Modification sites at PhosphoSitePlus

Other Protein References for NEFL Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for NEFL Gene

Domains & Families for NEFL Gene

Gene Families for NEFL Gene

Protein Domains for NEFL Gene

InterPro:
Blocks:
  • Intermediate filament protein
ProtoNet:

Suggested Antigen Peptide Sequences for NEFL Gene

GenScript: Design optimal peptide antigens:
  • Neurofilament triplet L protein (NFL_HUMAN)
  • Neurofilament-light (Q7Z5R4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P07196

UniProtKB/Swiss-Prot:

NFL_HUMAN :
  • The extra mass and high charge density that distinguish the neurofilament proteins from all other intermediate filament proteins are due to the tailpiece extensions. This region may form a charged scaffolding structure suitable for interaction with other neuronal components or ions.
  • Belongs to the intermediate filament family.
Domain:
  • The extra mass and high charge density that distinguish the neurofilament proteins from all other intermediate filament proteins are due to the tailpiece extensions. This region may form a charged scaffolding structure suitable for interaction with other neuronal components or ions.
Family:
  • Belongs to the intermediate filament family.
genes like me logo Genes that share domains with NEFL: view

Function for NEFL Gene

Molecular function for NEFL Gene

UniProtKB/Swiss-Prot Function:
Neurofilaments usually contain three intermediate filament proteins: NEFL, NEFM, and NEFH which are involved in the maintenance of neuronal caliber. May additionally cooperate with the neuronal intermediate filament proteins PRPH and INA to form neuronal filamentous networks (By similarity).
GENATLAS Biochemistry:
neurofilament,light polypeptide (68kDa)

Phenotypes From GWAS Catalog for NEFL Gene

Gene Ontology (GO) - Molecular Function for NEFL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005200 structural constituent of cytoskeleton IEA,IDA 12432080
GO:0005515 protein binding IPI 12837694
GO:0008022 protein C-terminus binding IPI 12226091
GO:0019904 protein domain specific binding IEA --
GO:0030674 protein binding, bridging IEA,ISS --
genes like me logo Genes that share ontologies with NEFL: view
genes like me logo Genes that share phenotypes with NEFL: view

Human Phenotype Ontology for NEFL Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NEFL Gene

MGI Knock Outs for NEFL:

CRISPR Products

miRNA for NEFL Gene

miRTarBase miRNAs that target NEFL

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NEFL

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NEFL Gene

Localization for NEFL Gene

Subcellular locations from UniProtKB/Swiss-Prot for NEFL Gene

Cell projection, axon. Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NEFL gene
Compartment Confidence
cytoskeleton 5
cytosol 4
plasma membrane 2
extracellular 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
lysosome 2
peroxisome 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Intermediate filaments (2)
  • Nuclear speckles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NEFL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,ISS --
GO:0005829 cytosol TAS --
GO:0005882 intermediate filament IEA --
GO:0005883 neurofilament IEA,IDA 15857389
GO:0030424 axon IEA,IDA 14662745
genes like me logo Genes that share ontologies with NEFL: view

Pathways & Interactions for NEFL Gene

PathCards logo

SuperPathways for NEFL Gene

SuperPathway Contained pathways
1 RET signaling
2 Post NMDA receptor activation events
3 Transmission across Chemical Synapses
4 Amyotrophic lateral sclerosis (ALS)
5 Developmental Biology
genes like me logo Genes that share pathways with NEFL: view

Pathways by source for NEFL Gene

SIGNOR curated interactions for NEFL Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for NEFL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0000226 microtubule cytoskeleton organization IEA --
GO:0008089 anterograde axonal transport IMP 15857389
GO:0008090 retrograde axonal transport IMP 15857389
GO:0009636 response to toxic substance IEA --
genes like me logo Genes that share ontologies with NEFL: view

Drugs & Compounds for NEFL Gene

(3) Drugs for NEFL Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(4) Additional Compounds for NEFL Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with NEFL: view

Transcripts for NEFL Gene

mRNA/cDNA for NEFL Gene

1 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NEFL

Alternative Splicing Database (ASD) splice patterns (SP) for NEFL Gene

No ASD Table

Relevant External Links for NEFL Gene

GeneLoc Exon Structure for
NEFL

Expression for NEFL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NEFL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NEFL Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x10.1), Brain - Cortex (x8.9), Brain - Anterior cingulate cortex (BA24) (x8.0), Brain - Substantia nigra (x4.8), Brain - Hypothalamus (x4.2), and Brain - Hippocampus (x4.2).

Protein differential expression in normal tissues from HIPED for NEFL Gene

This gene is overexpressed in Spinal cord (47.5), Frontal cortex (11.7), and Brain (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NEFL Gene



Protein tissue co-expression partners for NEFL Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NEFL

SOURCE GeneReport for Unigene cluster for NEFL Gene:

Hs.521461

Evidence on tissue expression from TISSUES for NEFL Gene

  • Nervous system(4.7)
  • Eye(2.6)
  • Blood(2.6)
  • Skin(2.6)
  • Heart(2.3)
  • Muscle(2.1)
  • Adrenal gland(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NEFL Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • head
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • finger
  • foot
  • forearm
  • hand
  • hip
  • knee
  • lower limb
  • shin
  • shoulder
  • thigh
  • toe
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with NEFL: view

No data available for mRNA Expression by UniProt/SwissProt for NEFL Gene

Orthologs for NEFL Gene

This gene was present in the common ancestor of chordates.

Orthologs for NEFL Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia NEFL 30
  • 99.75 (n)
Dog
(Canis familiaris)
Mammalia NEFL 30
  • 94.63 (n)
Cow
(Bos Taurus)
Mammalia NEFL 30
  • 93.43 (n)
Mouse
(Mus musculus)
Mammalia Nefl 30 17
  • 89.62 (n)
Rat
(Rattus norvegicus)
Mammalia Nefl 30
  • 89.19 (n)
Chicken
(Gallus gallus)
Aves NEFL 30
  • 81.95 (n)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia nefl 30
  • 72.07 (n)
African clawed frog
(Xenopus laevis)
Amphibia LOC397822 30
Zebrafish
(Danio rerio)
Actinopterygii neflb 30
  • 61.82 (n)
sbcb126 30
Species where no ortholog for NEFL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for NEFL Gene

ENSEMBL:
Gene Tree for NEFL (if available)
TreeFam:
Gene Tree for NEFL (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NEFL: view image

Paralogs for NEFL Gene

(34) SIMAP similar genes for NEFL Gene using alignment to 3 proteins:

  • NFL_HUMAN
  • I6L9F6_HUMAN
  • Q7Z5R4_HUMAN

Pseudogenes.org Pseudogenes for NEFL Gene

genes like me logo Genes that share paralogs with NEFL: view

Variants for NEFL Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NEFL Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
637889 Benign: not specified 24,956,324(-) C/T SYNONYMOUS_VARIANT
639457 Uncertain Significance: Charcot-Marie-Tooth disease type 2E 24,952,908(-) C/A MISSENSE_VARIANT
640180 Uncertain Significance: Charcot-Marie-Tooth disease type 2E 24,955,918(-) C/G MISSENSE_VARIANT
644036 Uncertain Significance: Charcot-Marie-Tooth disease type 2E 24,955,839(-) A/G MISSENSE_VARIANT
644708 Uncertain Significance: Charcot-Marie-Tooth disease type 2E 24,953,663(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for NEFL Gene

Structural Variations from Database of Genomic Variants (DGV) for NEFL Gene

Variant ID Type Subtype PubMed ID
esv3616666 OTHER inversion 21293372
esv3891377 CNV loss 25118596

Additional Variant Information for NEFL Gene

Human Gene Mutation Database (HGMD)
NEFL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NEFL

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for NEFL Gene

Disorders for NEFL Gene

MalaCards: The human disease database

(48) MalaCards diseases for NEFL Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

UniProtKB/Swiss-Prot

NFL_HUMAN
  • Charcot-Marie-Tooth disease 1F (CMT1F) [MIM:607734]: A dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. CMT1F is characterized by onset in infancy or childhood (range 1 to 13 years). {ECO:0000269 PubMed:12566280, ECO:0000269 PubMed:15241803}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Charcot-Marie-Tooth disease 2E (CMT2E) [MIM:607684]: A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. {ECO:0000269 PubMed:10841809, ECO:0000269 PubMed:11220745, ECO:0000269 PubMed:12481988, ECO:0000269 PubMed:15241803, ECO:0000269 PubMed:17052987, ECO:0000269 PubMed:22206013, ECO:0000269 PubMed:25802885}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Charcot-Marie-Tooth disease, dominant intermediate G (CMTDIG) [MIM:617882]: An autosomal dominant, intermediate form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Dominant intermediate forms are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. CMTDIG is phenotypically variable. Most affected individuals have onset in the first or second decades of slowly progressive distal motor weakness and atrophy, resulting in gait instability and distal upper limb impairment, as well as distal sensory impairment. {ECO:0000269 PubMed:14733962, ECO:0000269 PubMed:17052987, ECO:0000269 PubMed:25877835, ECO:0000269 PubMed:26645395}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for NEFL

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with NEFL: view

No data available for Genatlas for NEFL Gene

Publications for NEFL Gene

  1. Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton. (PMID: 17052987) Fabrizi GM … Rizzuto N (Brain : a journal of neurology 2007) 3 4 23
  2. Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene. (PMID: 17620486) Miltenberger-Miltenyi G … Löscher WN (Archives of neurology 2007) 2 3 23
  3. Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients. (PMID: 15241803) Choi BO … Chung KW (Human mutation 2004) 3 4 23
  4. The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy. (PMID: 14733962) Züchner S … Schröder JM (Neuromuscular disorders : NMD 2004) 3 4 41
  5. Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. (PMID: 12566280) Jordanova A … Timmerman V (Brain : a journal of neurology 2003) 3 4 23

Products for NEFL Gene

Sources for NEFL Gene