NEFH - neurofilament heavy chain Gene

Also Known as NFH; CMT2CC

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4744

About NEFH

Cytogenetic location: 22q12.2 Genomic coordinates (GRCh38): 22:29,480,218-29,491,390 (from NCBI)

This gene has 1 transcript (splice variant), 96 orthologues and is associated with 3 phenotypes. Biased expression in prostate (RPKM 140.1), brain (RPKM 16.4) and 2 other tissues.

Summary

Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the heavy neurofilament protein. This protein is commonly used as a biomarker of neuronal damage and susceptibility to amyotrophic lateral sclerosis (ALS) has been associated with mutations in this gene. [provided by RefSeq, Oct 2008]

NEFH Products (1)

mRNA	Protein	Name
NM_021076.4	NP_066554.2	neurofilament heavy polypeptide

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32814053	GOA
enables protein kinase binding	IPI IPI: Inferred from physical interaction	9313898	GOA
enables structural constituent of cytoskeleton	IMP IMP: Inferred from mutant phenotype	7536898	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in axon development	IMP IMP: Inferred from mutant phenotype	7536898	GOA
involved in neurofilament bundle assembly	IMP IMP: Inferred from mutant phenotype	7536898	GOA
involved in regulation of organelle transport along microtubule	IMP IMP: Inferred from mutant phenotype	7536898	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	27040688	GOA
located in cytoskeleton	IDA IDA: Inferred from direct assay	24327345	GOA
located in neurofibrillary tangle	IDA IDA: Inferred from direct assay	21828286	GOA

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

NEFH Protein Structure

Filament

DUF1388

0
200
400
600
800
1020 a.a.

Protein Preferred Names	Protein Names
neurofilament heavy polypeptide	200 kDa neurofilament protein

NEFH Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81633	Neurofilament Heavy Polypeptide Antibody (YA1378)	WB, IHC-F, IHC-P, ICC/IF	Human, Mouse, Rat
HY-P81633A	Neurofilament Heavy Polypeptide Antibody (YA1378)(PBS only)	WB, IHC-F, IHC-P, ICC/IF	Human, Mouse, Rat
HY-P84072	Neurofilament Heavy Polypeptide Antibody (YA3769)	IHC-P, FC, ELISA	Human
HY-P84072A	Neurofilament Heavy Polypeptide Antibody (YA3769)(PBS only)	IHC-P, FC, ELISA	Human
HY-P86566	Neurofilament heavy polypeptide Antibody (YA6258)	WB, IHC-P, ICC/IF, IP, ELISA	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Charcot-Marie-Tooth Disease, Axonal, Type 2cc	Charcot-Marie-Tooth Disease Axonal Type 2cc CMT2CC Charcot-Marie-Tooth Neuropathy, Type 2cc Charcot-Marie-Tooth Neuropathy Type 2cc Charcot-Marie-Tooth Disease 2cc
Amyotrophic Lateral Sclerosis 1	Amyotrophic Lateral Sclerosis ALS Lou Gehrig Disease Amyotrophic Lateral Sclerosis Type 1 Charcot Disease ALS1 Amyotrophic Lateral Sclerosis, Susceptibility To Fals Lou Gehrig'S Disease Mnd Motor Neuron Disease Familial Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis 1, Familial Amyotrophic Lateral Sclerosis 1, Autosomal Dominant Motor Neuron Disease, Bulbar Motor Neurone Disease Amyotrophic Lateral Sclerosis With Dementia Dementia With Amyotrophic Lateral Sclerosis Motor Neuron Disease, Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic Sclerosis, Lateral, Amyotrophic, Type 1 Amyotrophic Sclerosis Als - [Amyotrophic Lateral Sclerosis] Wasting Palsy Amyotrophic Paralysis Amyotrophy Lateral Sclerosis Wasting Paralysis Spinal Progressive Amyotrophy Progressive Atrophic Paralysis
Lateral Sclerosis	Primary Lateral Sclerosis Adult-Onset Primary Lateral Sclerosis Adult-Onset Pls Motor Neuron Disease Pls Pls - [Primary Lateral Sclerosis] Lateral Spinal Sclerosis Lateral Complete Paralysis Lateral Incomplete Paralysis Lateral Paralysis
Hereditary Motor And Sensory Neuropathy, Type Iic	CMT2C Charcot-Marie-Tooth Disease Axonal Type 2c HMSN2C Hmsn Iic Autosomal Dominant Charcot-Marie-Tooth Disease Type 2c Charcot-Marie-Tooth Neuropathy Type 2c Hereditary Motor And Sensory Neuropathy Type Iic Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2c Charcot-Marie-Tooth Neuropathy, Type 2c Autosomal Cominant Axonal Charcot-Marie-Tooth Disease Type 2c Charcot-Marie-Tooth Disease 2c Charcot-Marie-Tooth Disease Axonal Autosomal Dominant 2c Charcot-Marie-Tooth Disease, Type 2c
Motor Neuron Disease	Anterior Horn Cell Disease Motor Neuron Diseases Mnd - [Motor Neurone Disease] Lou Gehrig Disease Creeping Palsy Creeping Paralysis Bulbar Motor Neuron Disease Bulbar Syndrome Anterior Horn Cell Disorder Hereditary Motor Neuron Disease
Tooth Disease	Tooth Diseases Teeth Disease Tooth Disorders
Charcot-Marie-Tooth Disease	Cmt Hmsn Hereditary Motor And Sensory Neuropathy Pma Cmt - Charcot-Marie-Tooth Disease Charcot Marie Tooth Disease Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Syndrome Peroneal Muscular Atrophy Hereditary Motor And Sensory Neuropathies
Axonal Neuropathy
Charcot-Marie-Tooth Disease, Axonal, Type 2e	Charcot-Marie-Tooth Disease Type 2 CMT2E CMT2S CMT2Y Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease Axonal Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2s Charcot-Marie-Tooth Disease, Type 2e Hereditary Motor And Sensory Neuropathy Type 2 Charcot-Marie-Tooth Neuropathy, Type 2s Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2y Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y Charcot-Marie-Tooth Neuropathy, Type 2y Charcot-Marie-Tooth Disease, Type 2y Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Neuropathy Type 2e Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation Cmt2 Due To Vcp Mutation Charcot-Marie-Tooth Disease Type 2s Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Cmt2 Charcot-Marie-Tooth Neuropathy, Type 2e Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type Hereditary Motor And Sensory Neuropathy Okinawa Type Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y Charcot-Marie-Tooth Neuropathy Type 2y Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s Charcot-Marie-Tooth Neuropathy Type 2s Charcot-Marie-Tooth Type 2 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease 2e Charcot-Marie-Tooth Disease Axonal Type 2e Charcot-Marie-Tooth Disease Neuronal Type 2e Charcot-Marie-Tooth Disease 2s Charcot-Marie-Tooth Neuropathy Axonal Type 2s Charcot-Marie-Tooth Disease 2y Charcot-Marie-Tooth Disease, Type 2 Hereditary Motor And Sensory-Neuropathy Type Ii
Charcot-Marie-Tooth Disease, Demyelinating, Type 1f	Charcot-Marie-Tooth Disease Type 1f CMT1F Charcot-Marie-Tooth Disease, Type 1f Charcot-Marie-Tooth Neuropathy Type 1f Charcot-Marie-Tooth Neuropathy, Type 1f Charcot-Marie-Tooth Disease Type 2b5 Ar-Cmt2b5 Autosomal Recessive Charcot-Marie-Tooth Disease Type 2b5 Seoan Due To Nefl Deficiency Severe Early-Onset Axonal Neuropathy Due To Nefl Deficiency Severe Early-Onset Axonal Neuropathy Due To Light Neurofilament Subunit Deficiency Charcot-Marie-Tooth Disease 1f Charcot-Marie-Tooth Disease Demyelinating Type 1f Charcot-Marie-Tooth Disease, Type If
Progressive Muscular Atrophy	Progressive Spinal Muscular Atrophy Pure Progressive Muscular Atrophy Pma Hereditary Spinal Muscle Atrophy Pma - [Progressive Muscular Atrophy] Progressive Muscle Atrophy Progressive Spinal Muscle Atrophy Duchenne-Aran Atrophy Duchenne-Aran Muscle Atrophy Hereditary Sma - [Spinal Muscle Atrophy]
Charcot-Marie-Tooth Disease And Deafness	Charcot-Marie-Tooth Disease Type 1e CMT1E Charcot-Marie-Tooth Disease Type 1 Hereditary Motor And Sensory Neuropathy Type 1 Charcot-Marie-Tooth Disease, Demyelinating, Type 1e Charcot-Marie-Tooth Disease, Type I Charcot-Marie-Tooth Neuropathy And Deafness, Autosomal Dominant Charcot-Marie-Tooth Disease, Type 1e Charcot-Marie-Tooth Disease Demyelinating Type 1e Autosomal Dominant Demyelinating Charcot-Marie-Tooth Disease Cmt1 Charcot-Marie-Tooth Neuropathy Type 1 Autosomal Dominant Charcot-Marie-Tooth Neuropathy And Deafness Charcot-Marie-Tooth Disease-Deafness Charcot-Marie-Tooth Type 1 Hmsn1 Hereditary Motor And Sensory Neuropathy 1 Cmt 1e Charcot Marie Tooth Disease Type 1e Charcot-Marie-Tooth Disease-Deafness Syndrome Charcot-Marie-Tooth Disease-Hearing Loss Syndrome Charcot-Marie-Tooth Disease 1e Charcot-Marie-Tooth Disease And Deafness Autosomal Dominant Charcot-Marie-Tooth Neuropathy Type 1e Charcot-Marie-Tooth Disease, Type Ie Hereditary Motor And Sensory Neuropathy Type I
Progressive Bulbar Palsy	Bulbar Palsy, Progressive Progressive Bulbar Atrophy Bulbar Palsy Pbp - [Progressive Bulbar Palsy] Progressive Bulbar Paralysis Bulbar Paralysis Chronic Bulbar Palsy Chronic Bulbar Paralysis Supranuclear Bulbar Paralysis
Giant Axonal Neuropathy 2
Primary Progressive Multiple Sclerosis	Ppms Primary-Progressive Ms Multiple Sclerosis, Primary Progressive
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	FTDALS1 Frontotemporal Dementia And/Or Motor Neuron Disease Ftdmnd Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia Alsftd Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-1 Frontotemporal Dementia With Motor Neuron Disease Ftdals Ftd-Als Ftd-Mnd Frontotemporal Dementia With Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis With Frontotemporal Dementia 1 Amyotrophic Lateral Sclerosis/Frontotemporal Dementia Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia 1 Frontotemporal Lobar Degeneration Grn-Related Frontotemporal Dementia
Demyelinating Polyneuropathy	Peripheral Demyelinating Neuropathy Demyelinating Peripheral Neuropathy
Alzheimer Disease, Familial, 1	Alzheimer Disease Alzheimer'S Disease Presenile And Senile Dementia AD1 Alzheimer Disease, Susceptibility To Alzheimer Disease, Late-Onset, Susceptibility To Alzheimer Disease 1, Familial AD Familial Alzheimer Disease Alzheimer Disease, Late-Onset Alzheimers Dementia Alzheimer Dementia Alzheimer Sclerosis Alzheimer Syndrome Alzheimer-Type Dementia Dat Primary Senile Degenerative Dementia Sdat Alzheimer Disease 1 Autosomal Dominant Alzheimer Disease Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy Late Onset Alzheimer Disease Alzheimers Disease Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy Late-Onset Alzheimers Disease Alzheimer'S Disease Pathway Kegg Dementia Due To Alzheimer'S Disease Alzheimer Disease Type 1 Alzheimers
Normal Pressure Hydrocephalus	Low Pressure Hydrocephalus Hydrocephalus Normal Pressure Hydrocephalus, Normal Pressure Normal Pressure Hydrocephalus Nos Nph - [Normal Pressure Hydrocephalus] Normal Pressure Hydrocephaly
Spinal Muscular Atrophy, Type Ii	SMA2 Sma Ii Muscular Atrophy, Spinal, Intermediate Type Muscular Atrophy, Spinal, Infantile Chronic Form Intermediate Spinal Muscular Atrophy Spinal Muscular Atrophy Type Ii Spinal Muscular Atrophy-2 Spinal Muscular Atrophy 2 Spinal Muscular Atrophy Type 2 Dubowitz Disease Proximal Spinal Muscular Atrophy Type 2 Sma Type 2 Sma Type Ii Sma-Ii Spinal Muscular Atrophy Infantile Chronic Form Spinal Muscular Atrophy Intermediate Type Spinal Muscular Atrophies Of Childhood Atrophy, Muscular, Spinal, Type Ii Muscular Atrophy, Spinal, Type Ii
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Kennedy Disease Sbma Spinal And Bulbar Muscular Atrophy Kennedy'S Disease X-Linked Spinal And Bulbar Muscular Atrophy SMAX1 Kd Kennedy Spinal And Bulbar Muscular Atrophy Spinobulbar Muscular Atrophy Bulbospinal Muscular Atrophy, X-Linked Bulbospinal Neuronopathy, X-Linked Recessive Xbsn Spinal And Bulbar Muscular Atrophy Of Kennedy Bulbospinal Muscular Atrophy X-Linked Bulbospinal Amyotrophy Bulbo-Spinal Atrophy, X-Linked Spinal Bulbar Muscular Atrophy X-Linked Bulbo-Spinal Atrophy X-Linked Spinal Bulbar Muscular Atrophy X-Linked Bsma X-Linked Bulbospinal Muscular Atrophy Spinal And Bulbar Muscular Atrophy X-Linked 1 Bulbospinal Muscular Atrophy X-Linked Bulbospinal Neuronopathy X-Linked Recessive Kennedy Disease) Kennedy Syndrome Atrophy, Muscular, Spinal And Bulbar, Kennedy Type Atrophy, Muscular, Spinobulbar Bulbospinal Neuronopathy
Supranuclear Palsy, Progressive, 1	Progressive Supranuclear Palsy Steele-Richardson-Olszewski Syndrome Supranuclear Palsy, Progressive Progressive Supranuclear Ophthalmoplegia Psp PSNP1 Familial Progressive Supranuclear Palsy Richardson'S Syndrome Psp Syndrome Progressive Supranuclear Palsy 1 Supranuclear Palsy Progressive Ophthalmoplegia, Supranuclear, Progressive Steele-Richardson-Olszewksi Syndrome
Neuromuscular Disease	Neuromuscular Diseases Neuromuscular Disorders Neuromuscular Disorder
Hemochromatosis, Type 1	Hemochromatosis Hemochromatosis Type 1 Hereditary Hemochromatosis Hh HFE1 Hfe Hemochromatosis, Modifier Of Symptomatic Form Of Classic Hemochromatosis Symptomatic Form Of Hemochromatosis Type 1 Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis Haemochromatosis Iron Storage Disorder Bronze Diabetes Hereditary Haemochromatosis Hlah Hfe Hemochromatosis, Hereditary Diabetes Bronze Classic Hemochromatosis Hfe-Associated Hereditary Hemochromatosis Hemochromatosis Classic Bronzed Cirrhosis Familial Hemochromatosis Genetic Hemochromatosis Hc Pigmentary Cirrhosis Primary Hemochromatosis Troisier-Hanot-Chauffard Syndrome Von Recklenhausen-Applebaum Disease Hemochromatosis 1 Primary Hereditary Hemochromatosis Bronze Cirrhosis
Optic Nerve Disease	Optic Neuropathy Disorder Of The Second Nerve Optic Nerve Disorder Optic Nerve Abnormality Of The Optic Nerve Optic Nerve Disorders Neuropathy, Optic Disorder Of The Optic Nerve
Pick Disease Of Brain	Pick Disease Pick'S Disease Pick Disease Of The Brain Lobar Atrophy Of Brain Dementia With Lobar Atrophy And Neuronal Cytoplasmic Inclusions Behavioral Variant Of Frontotemporal Dementia Dementia In Pick'S Disease Lobar Atrophy Of The Brain Bvftd Bv-Ftd PIDB Picks Disease
Peripheral Nervous System Disease	Peripheral Neuropathy Peripheral Nerve Disease Peripheral Nerve Disorders Neuropathy, Peripheral Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
Frontotemporal Dementia	Pallidopontonigral Degeneration Frontotemporal Lobar Degeneration Semantic Dementia FTD Frontotemporal Lobe Dementia Multiple System Tauopathy With Presenile Dementia Dementia, Frontotemporal Frontotemporal Dementia With Parkinsonism Mstd Frontotemporal Lobar Degeneration With Tau Inclusions Ftld With Tau Inclusions Dementia, Frontotemporal, With Parkinsonism Fldem Ftdp17 Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex Ddpac Wilhelmsen-Lynch Disease Wld Ppnd Dementia, Frontotemporal, With Or Without Parkinsonism Semantic Primary Progressive Aphasia Semantic Variant Ppa Wilhemsen-Lynch Disease Frontotemporal Dementia-Amyotrophic Lateral Sclerosis Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17 Ftd-Als Ftld Pick Complex Pick Disease Of The Brain Frontotemporal Dementia With Parkinsonism-17 Grn-Related Frontotemporal Dementia Frontotemporal Dementia With Motor Neuron Disease Dementia In Fronto-Temporal Lobar Degeneration Ftd - [Frontotemporal Dementia] Temple Dementia Frontal Lobe Dementia
Intracranial Berry Aneurysm	Familial Aneurysmal Subarachnoid Hemorrhage Familial Berry Aneurysm Familial Intracranial Saccular Aneurysm Saccular Cerebral Aneurysm Aneurysm, Intracranial Berry Aneurysmal Subarachnoid Hemorrhage Aneurysm, Intracranial Berry, 1
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Familial Spastic Paraparesis Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

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
Bos taurus	NEFH	VGNC	VGNC:31985
Mus musculus	NEFH	MGD	MGI:97309
Rattus norvegicus	NEFH	RGD	RGD:3159
Felis catus	NEFH	VGNC	VGNC:82447
Macaca mulatta	NEFH	VGNC	VGNC:75306
Canis familiaris	NEFH	VGNC	VGNC:43723
Others	NEFH	NCBI