NEFM - neurofilament medium chain Gene

Homo sapiens

Also known as NFM; NEF3; NF-M

Gene ID: 4741 | Gene type: protein coding

About NEFM

Cytogenetic location: 8p21.2 Genomic coordinates (GRCh38): 8:24,913,761-24,919,093 (from NCBI)

This gene has 6 transcripts (splice variants), 83 orthologues and 68 paralogues. Biased expression in brain (RPKM 56.0), adrenal (RPKM 9.7) and 1 other tissue.

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 medium neurofilament protein. This protein is commonly used as a biomarker of neuronal damage. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]

NEFM Products(2)

mRNA	Protein	Name
NM_001105541.2	NP_001099011.1	neurofilament medium polypeptide isoform 2
NM_005382.2	NP_005373.2	neurofilament medium polypeptide isoform 1

NEFM Protein Structure

Filament_head

Filament

0
200
400
600
800
916 a.a.

Protein Preferred Names

Protein Names

neurofilament medium polypeptide

160 kDa neurofilament protein

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

Axonal Neuropathy

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

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

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

Down Syndrome

Trisomy 21	Complete Trisomy 21 Syndrome
Down'S Syndrome	Trisomy 21 Syndrome
Down'S Syndrome - Trisomy 21	Downs Syndrome
G Trisomy	47,Xx,+21
47,Xy,+21	Trisomy G
Down Syndrome, Susceptibility To	Chromosome 21 Trisomy
Trisomy 21 Nos	Abnormal Autosomes 21

Wallerian Degeneration

Wallerian Degeneration Of The Pyramidal Tract

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

Giant Axonal Neuropathy 2

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

Neuromuscular Disease

Neuromuscular Diseases	Neuromuscular Disorders
Neuromuscular Disorder

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

Peripheral Nervous System Disease

Peripheral Neuropathy	Peripheral Nerve Disease
Peripheral Nerve Disorders	Neuropathy, Peripheral
Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09185	NEFM Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	NEFM	VGNC	VGNC:31987
Rattus norvegicus	NEFM	RGD	RGD:3160
Mus musculus	NEFM	MGD	MGI:97314
Macaca mulatta	NEFM	VGNC	VGNC:75305
Canis familiaris	NEFM	VGNC	VGNC:43725
Felis catus	NEFM	VGNC	VGNC:68454