Nefh - neurofilament, heavy polypeptide Gene

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

Species: Mus musculus

Gene Type: protein coding

Gene ID: 380684

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	References	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	References	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	References	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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09183	NEFH Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22249	Nefh Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28771	Nefh Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Nefh	NCBI	NCBI:4744