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Gene: NEFL (neurofilament light) Homo sapiens
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Symbol: NEFL
Name: neurofilament light
Description: Exhibits identical protein binding activity and protein C-terminus binding activity. Involved in axonal transport and neurofilament bundle assembly. Localizes to the axon and neurofilament. Implicated in Charcot-Marie-Tooth disease (multiple); amyotrophic lateral sclerosis; and invasive ductal carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 68 kDa neurofilament protein; CMT1F; CMT2E; CMTDIG; FLJ53642; light molecular weight neurofilament protein; neurofilament light polypeptide; neurofilament protein, light chain; neurofilament subunit NF-L; neurofilament triplet L protein; neurofilament, light polypeptide; neurofilament, light polypeptide 68kDa; neurofilament-light; NF-L; NF68; NFL; PPP1R110
Orthologs:
Mus musculus (house mouse) : Nefl (neurofilament, light polypeptide)  MGI  Alliance
Rattus norvegicus (Norway rat) : Nefl (neurofilament light)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Nefl (neurofilament light)
Pan paniscus (bonobo/pygmy chimpanzee) : NEFL (neurofilament light)
Canis lupus familiaris (dog) : NEFL (neurofilament light)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Nefl (neurofilament light)
Sus scrofa (pig) : NEFL (neurofilament light)
Chlorocebus sabaeus (green monkey) : NEFL (neurofilament light)
Heterocephalus glaber (naked mole-rat) : Nefl (neurofilament light)
more info ...
Related Pseudogenes: NEFLP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl824,950,955 - 24,957,110 (-)Ensembl
GRCh38824,950,955 - 24,956,612 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37824,808,468 - 24,814,383 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36824,864,385 - 24,870,043 (-)NCBINCBI36hg18NCBI36
Build 34824,866,239 - 24,869,946NCBI
Celera823,772,893 - 23,778,556 (-)NCBI
Cytogenetic Map8p21.2NCBI
HuRef823,353,235 - 23,359,150 (-)NCBIHuRef
CHM1_1825,010,797 - 25,016,712 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
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References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
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Additional Information

External Database Links
Nomenclature History
 
More on NEFL
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1344238
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2020-02-11
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.