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Gene: Nefh (neurofilament, heavy polypeptide) Mus musculus
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Symbol: Nefh
Name: neurofilament, heavy polypeptide
Description: A structural constituent of postsynaptic intermediate filament cytoskeleton. Involved in cellular response to leukemia inhibitory factor; cytoskeleton organization; and peripheral nervous system neuron axonogenesis. Localizes to several cellular components, including Schaffer collateral - CA1 synapse; intermediate filament cytoskeleton; and postsynaptic density. Is expressed in several structures, including alimentary system; genitourinary system; hemolymphoid system gland; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2CC; amyotrophic lateral sclerosis; amyotrophic lateral sclerosis type 1; and monoclonal gammopathy of uncertain significance. Orthologous to human NEFH (neurofilament heavy); PARTICIPATES IN amyotrophic lateral sclerosis pathway; INTERACTS WITH 2,2',4,4',5,5'-hexachlorobiphenyl; 2,2',5,5'-tetrachlorobiphenyl; bisphenol A.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: 200 kDa neurofilament protein; mKIAA0845; neurofilament 200kDa; neurofilament heavy polypeptide; neurofilament triplet H protein; NF-H; NF200; Nfh
Orthologs:
Homo sapiens (human) : NEFH (neurofilament heavy)  HGNC  Alliance
Rattus norvegicus (Norway rat) : Nefh (neurofilament heavy)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Nefh (neurofilament heavy)
Pan paniscus (bonobo/pygmy chimpanzee) : NEFH (neurofilament heavy)
Canis lupus familiaris (dog) : NEFH (neurofilament heavy)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Nefh (neurofilament heavy)
Sus scrofa (pig) : NEFH (neurofilament heavy)
Chlorocebus sabaeus (African green monkey) : NEFH (neurofilament heavy)
Heterocephalus glaber (naked mole-rat) : Nefh (neurofilament heavy)
more info ...
Latest Assembly: GRCm38 - Mouse Genome Assembly GRCm38
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm38 Ensembl114,938,754 - 4,948,064 (-)EnsemblGRCm38mm10GRCm38
GRCm38114,938,754 - 4,948,064 (-)NCBIGRCm38GRCm38mm10GRCm38
MGSCv37114,838,757 - 4,848,067 (-)NCBIGRCm37mm9NCBIm37
MGSCv36114,838,761 - 4,851,268 (-)NCBImm8
Celera115,436,254 - 5,444,974 (-)NCBICelera
Cytogenetic Map11A1NCBI
cM Map113.12NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
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Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
QTLs in Region (GRCm38)
miRNA Target Status

Expression


Sequence

Nucleotide Sequences
Protein Sequences
Promoters

Additional Information

External Database Links
 
More on Nefh
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: mm9 mm10
MGI Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 10969
Created: 2000-05-25
Species: Mus musculus
Last Modified: 2020-06-19
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.