2. Gene
  3. Nefh - neurofilament, heavy polypeptide Gene

Nefh - neurofilament, heavy polypeptide Gene

  • Gene
  • Protein
  • Agent
  • Ortholog
Mus musculus

Also known as Nfh; NF-H; NF200; mKIAA0845

Gene ID: 380684 | Gene type: protein coding

About Nefh

Summary

A structural constituent of postsynaptic intermediate filament Cytoskeleton. Involved in axon development. Acts upstream of or within cellular response to leukemia inhibitory factor; Cytoskeleton organization; and peripheral nervous system neuron axonogenesis. Located in 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 chain). [provided by Alliance of Genome Resources, Apr 2022]

Nefh Products(1)

mRNA Protein Name
NM_010904.3 NP_035034.2 neurofilament heavy polypeptide
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables structural constituent of postsynaptic intermediate filament cytoskeleton IDA
IDA: Inferred from direct assay
25869803 MGI
enables structural constituent of postsynaptic intermediate filament cytoskeleton IMP
IMP: Inferred from mutant phenotype
25869803 MGI
Biological Process GO Annotation Evidence Reference Source
involved in axon development IMP
IMP: Inferred from mutant phenotype
9763431 MGI
acts upstream of or within cellular response to leukemia inhibitory factor IEP
IEP: Inferred from expression pattern
20439489 MGI
acts upstream of or within intermediate filament bundle assembly IGI
IGI: Inferred from genetic interaction
10461886 MGI
acts upstream of or within intermediate filament cytoskeleton organization IMP
IMP: Inferred from mutant phenotype
14561875 MGI
acts upstream of or within microtubule cytoskeleton organization IGI
IGI: Inferred from genetic interaction
10461886 MGI
acts upstream of or within neurofilament cytoskeleton organization IGI
IGI: Inferred from genetic interaction
10461886 MGI
acts upstream of or within neurofilament cytoskeleton organization IMP
IMP: Inferred from mutant phenotype
20633607 MGI
acts upstream of or within peripheral nervous system neuron axonogenesis IMP
IMP: Inferred from mutant phenotype
20633607 MGI
involved in postsynaptic modulation of chemical synaptic transmission IDA
IDA: Inferred from direct assay
25869803 MGI
involved in postsynaptic modulation of chemical synaptic transmission IMP
IMP: Inferred from mutant phenotype
25869803 MGI
Cellular Component GO Annotation Evidence Reference Source
is active in Schaffer collateral - CA1 synapse IDA
IDA: Inferred from direct assay
25869803 MGI
is active in Schaffer collateral - CA1 synapse IMP
IMP: Inferred from mutant phenotype
25869803 MGI
located in axon IDA
IDA: Inferred from direct assay
8110465 MGI
located in neurofilament IDA
IDA: Inferred from direct assay
10221457 MGI
located in postsynaptic density IDA
IDA: Inferred from direct assay
17114649 MGI
is active in postsynaptic intermediate filament cytoskeleton IDA
IDA: Inferred from direct assay
25869803 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

neurofilament heavy polypeptide

200 kDa neurofilament protein

neurofilament 200kDa

neurofilament triplet H protein

Related Agents

Pre-clinical Phase
Bioactive Molecules (2)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS09183 NEFH Human Pre-designed siRNA Set A Pre-designed Sets / Unkown
HY-RS22249 Nefh Mouse Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Nefh NCBI NCBI:4744