MFN1 - mitofusin 1 Gene

Also Known as hfzo1; hfzo2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55669

About MFN1

Cytogenetic location: 3q26.33 Genomic coordinates (GRCh38): 3:179,347,709-179,394,936 (from NCBI)

This gene has 9 transcripts (splice variants), 276 orthologues and 1 paralogue. Ubiquitous expression in heart (RPKM 9.7), prostate (RPKM 9.7) and 25 other tissues.

Summary

The protein encoded by this gene is a mediator of mitochondrial fusion. This protein and mitofusin 2 are homologs of the Drosophila protein fuzzy onion (Fzo). They are mitochondrial membrane proteins that interact with each Other to facilitate mitochondrial targeting. [provided by RefSeq, Jul 2008]

MFN1 Products (1)

mRNA Protein Name
NM_033540.3 NP_284941.2 mitofusin-1

MFN1 Protein Structure

Dynamin_N

Dynamin_N: Dynamin family (78 - 237)

Fzo_mitofusin

Fzo_mitofusin: fzo-like conserved region (568 - 736)

  • 0
  • 200
  • 400
  • 600
  • 741 a.a.
Protein Preferred Names Protein Names

mitofusin-1

  • fzo homolog

MFN1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
MFN1 Q8IWA4 MFN2 Homo sapiens O95140 35271311
Intra
MFN1 Q8IWA4 MFN2 Homo sapiens O95140 33961781
Intra
MFN1 Q8IWA4 MFN1 Homo sapiens Q8IWA4
GMS
29483649
Intra
MFN1 Q8IWA4 MFN2 Homo sapiens O95140 28514442
Intra
MFN1 Q8IWA4 MFN1 Homo sapiens Q8IWA4 29483649
Intra
MFN1 Q8IWA4 MFN2 Homo sapiens O95140 19052620
Intra
MFN1 Q8IWA4 MFN1 Homo sapiens Q8IWA4 29483649
Intra
MFN1 Q8IWA4 MAVS Homo sapiens Q7Z434 20019757
Cross: Cross-species interaction Intra: Intraspecies interaction

MFN1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P86123 MFN1 Antibody (YA5815) WB Human, Mouse, Rat

Related Diseases

Diseases Alias
3-Methylglutaconic Aciduria, Type Iii
  • Optic Atrophy

  • 3-Methylglutaconic Aciduria Type 3

  • Costeff Syndrome

  • Mga3

  • Costeff Optic Atrophy Syndrome

  • Optic Atrophy Plus Syndrome

  • Infantile Optic Atrophy With Chorea And Spastic Paraplegia

  • 3-Methylglutaconic Aciduria Type Iii

  • Autosomal Recessive Optic Atrophy Plus Syndrome

  • Autosomal Recessive Optic Atrophy Type 3

  • Opa3 Defect

  • MGCA3

  • Mga, Type Iii

  • Iraqi Jewish Optic Atrophy Plus

  • Mga Type Iii

  • Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia

  • Iraqi-Jewish 'Optic Atrophy Plus'

  • Optic Atrophy 3, Autosomal Recessive

  • Opa3, Autosomal Recessive

  • Opa3-Related 3-Methylglutaconic Aciduria

  • Iraqi-Jewish Optic Atrophy Plus

  • Atrophy Of Optic Disc

  • 3-Alpha Methylglutaconic Aciduria Type Iii

  • Optic Atrophy 3

  • Optic Atrophy Infantile With Chorea And Spastic Paraplegia

  • Autosomal Recessive Opa3

  • Autosomal Recessive Optic Atrophy 3

  • 3-Methylglutaconic Aciduria 3

  • 3-Alpha-Methylglutaconic Aciduria Type 3

  • Optic Atrophy 3 Autosomal Recessive

  • Atrophy, Optic

  • Atrophy, Optic, Plus Syndrome

  • Optic Nerve Atrophy

  • Primary Optic Atrophy

  • Oa - [Optic Atrophy]

  • Second Cranial Nerve Atrophy

  • Second Cranium Nerve Atrophy

Optic Atrophy 3, Autosomal Dominant
  • Optic Atrophy 3

  • OPA3

  • Autosomal Dominant Optic Atrophy And Cataract

  • Optic Atrophy And Cataract, Autosomal Dominant

  • Autosomal Dominant Optic Atrophy Type 3

  • Optic Atrophy 3 With Cataract

  • Opa3, Autosomal Dominant

  • Adoac

  • Optic Atrophy, Cataract, And Neurologic Disorder

  • Autosomal Dominant Optic Atrophy 3

  • Optic Atrophy Type 3

  • Optic Atrophy 3 Autosomal Dominant

  • Atrophy, Optic, Type 3, Autosomal Dominant

  • 3-Methylglutaconic Aciduria Type 3

Cranial Nerve Disease
  • Cranial Nerve Disorder

  • Disorder Of Cranial Nerve

  • Cranial Nerve Diseases

Optic Atrophy 11
  • OPA11

  • Atrophy, Optic, Type 11

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

Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
  • Charcot-Marie-Tooth Disease Type 4

  • Charcot-Marie-Tooth Disease Type 4e

  • Hereditary Motor And Sensory Neuropathy

  • Cmt4e

  • CHN1

  • Hypomyelinating Neuropathy, Congenital, 1

  • Charcot-Marie-Tooth Neuropathy Type 4e

  • Neuropathy, Congenital Hypomyelinating, 1

  • Ar-Cmt1

  • Autosomal Recessive Demyelinating Charcot-Marie-Tooth

  • Cmt4

  • Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive

  • Hypomyelination, Severe Congenital

  • Charcot-Marie-Tooth Disease, Type 4e

  • Charcot-Marie-Tooth Neuropathy, Type 4e

  • Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy

  • Autosomal Recessive Congenital Hypomyelinating Neuropathy

  • Congenital Amyelinating Neuropathy

  • Congenital Hypomyelinating Neuropathy Autosomal Recessive

  • Neuropathy, Congenital Hypomyelinating Or Amyelinating

  • Severe Congenital Hypomyelination

  • Hereditary Sensory Motor Neuropathy

  • Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive

  • Neuropathy, Hypomyelinating, Congenital, Type 1

  • Neuropathy, Motor And Sensory, Hereditary

  • Congenital Hypomyelinating Neuropathy

  • Hereditary Motor And Sensory Neuropathies

  • Hereditary Sensorimotor Neuropathy

  • Hmsn - [Hereditary Motor And Sensory Neuropathy]

  • Hsmn - [Hereditary Sensory And Motor Neuropathy]

  • Hereditary Motor And Sensory Neuropathy, Types I-Iv

Charcot-Marie-Tooth Disease Type 2a2b
  • Severe Early-Onset Axonal Neuropathy Due To Mfn2 Deficiency

  • Ar-Cmt2, Ouvrier Type

  • Autosomal Recessive Charcot-Marie-Tooth Disease, Ouvrier Type

  • Seoan Due To Mfn2 Deficiency

  • Charcot-Marie-Tooth Disease, Axonal, Type 2a2b

  • Cmt2a2b

  • Charcot-Marie-Tooth Disease, Type 2a2b

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

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

Myopathy, Centronuclear, 1
  • Autosomal Dominant Centronuclear Myopathy

  • CNM1

  • Centronuclear Myopathy 1

  • Ad-Cnm

  • Myopathy, Centronuclear, Autosomal Dominant

  • Myotubular Myopathy, Autosomal Dominant

  • Centronuclear Myopathy, Autosomal, Modifier Of

  • Autosomal Dominant Myotubular Myopathy

  • Dnm2-Related Centronuclear Myopathy

  • Centronuclear Myopathy Autosomal Dominant

  • Myopathies, Structural, Congenital

  • Myopathy, Centronuclear, Type 1

Parkinson Disease, Late-Onset
  • Parkinson Disease

  • Parkinson'S Disease

  • PD

  • PARK

  • Parkinson Disease, Susceptibility To

  • Late Onset Parkinson'S Disease

  • Late Onset Parkinson Disease

  • Paralysis Agitans

  • Primary Parkinsonism

  • Idiopathic Parkinson Disease

  • Parkinson'S

  • Parkinson Disease, Late-Onset, Susceptibility To

  • Parkinson Disease, Age Of Onset, Modifier

  • Lewy Body Parkinson Disease

  • Idiopathic Parkinson'S Disease

  • Pd - [Parkinson Disease]

  • Parkinson Disease Nos

  • Parkinson, Nos

  • Primary Parkinson Disease

Leber Hereditary Optic Neuropathy, Modifier Of
  • Leber Optic Atrophy

  • Leber Hereditary Optic Neuropathy

  • LHON

  • Leber'S Hereditary Optic Neuropathy

  • Leber Optic Atrophy, Susceptibility To

  • Leber'S Optic Atrophy

  • LOAM

  • Loas

  • Leber'S Disease

  • Leber'S Optic Neuropathy

  • Optic Atrophy, Hereditary, Leber

  • Lhon, Modifier Of

  • Optic Atrophy, Leber Type

  • Hereditary Optic Neuroretinopathy

  • Leber Hereditary Optic Atrophy

  • Loa

  • Optic Atrophy Leber Type

  • Leber Hereditary Optic Neuropathy, Modifier

  • Leber Hereditary Optic Neuropathy Susceptibility

  • Modifier Of Leber Hereditary Optic Neuropathy

  • Lebers Hereditary Optic Neuropathy

  • Leber Congenital Amaurosis

Neuromuscular Disease
  • Neuromuscular Diseases

  • Neuromuscular Disorders

  • Neuromuscular Disorder

Mitochondrial Myopathy
  • Mitochondrial Myopathies

  • Mitochondrial Cytopathy

  • Myopathies In Mitochondrial Disorders

Peripheral Nervous System Disease
  • Peripheral Neuropathy

  • Peripheral Nerve Disease

  • Peripheral Nerve Disorders

  • Neuropathy, Peripheral

  • Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Leigh Syndrome
  • Leigh Disease

  • Infantile Subacute Necrotizing Encephalopathy

  • Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency

  • LS

  • Sne

  • Leigh'S Disease

  • Leigh Syndrome Due To Mitochondrial Complex I Deficiency

  • Necrotizing Encephalopathy, Infantile Subacute, Of Leigh

  • Subacute Necrotizing Encephalomyelopathy

  • Necrotizing Encephalopathy Infantile Subacute Of Leigh

  • Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency

  • Infantile Necrotizing Encephalomyelopathy

  • Juvenile Subacute Necrotizing Encephalomyelopathy

  • Leigh'S Necrotizing Encephalopathy

  • Subacute Necrotizing Encephalopathy

  • Juvenile Subacute Necrotizing Encephalopathy

  • Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency

  • Leigh Syndrome Due To Mitochondrial Complex V Deficiency

  • Encephalopathy, Subacute Necrotizing, Infantile

  • Encephalopathy, Subacute Necrotizing, Juvenile

  • Maternally Inherited Leigh Syndrome

  • Subacute Necrotising Encephalomyelopathy

  • Subacute Necrotising Encephalopathy

Mitochondrial Complex I Deficiency, Nuclear Type 1
  • Mitochondrial Complex I Deficiency

  • Nadh:Q(1) Oxidoreductase Deficiency

  • MC1DN1

  • Nadh-Coenzyme Q Reductase Deficiency

  • Isolated Mitochondrial Respiratory Chain Complex I Deficiency

  • Isolated Nadh-Coenzyme Q Reductase Deficiency

  • Isolated Nadh-Coq Reductase Deficiency

  • Isolated Nadh-Ubiquinone Reductase Deficiency

  • Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of

  • Nuclear Type Mitochondrial Complex I Deficiency 1

  • Isolated Complex I Deficiency

  • Complex 1 Mitochondrial Respiratory Chain Deficiency

  • Nadh Coenzyme Q Reductase Deficiency

  • Complex I Mitochondrial Respiratory Chain Deficiency

  • Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I

  • Nadh:Ubiquinone Oxidoreductase Deficiency

  • Complex I, Mitochondrial Respiratory Chain, Deficiency Of

Dilated Cardiomyopathy
  • Familial Dilated Cardiomyopathy

  • Primary Dilated Cardiomyopathy

  • Idiopathic Dilated Cardiomyopathy

  • Congestive Cardiomyopathy

  • Idiopathic Dilation Cardiomyopathy

  • Primary Familial Dilated Cardiomyopathy

  • Cardiomyopathy, Dilated

  • DCM

  • Cardiomyopathy, Familial Dilated

  • Dilated Cardiomyopathy, Familial

  • Hypokinetic Dilated Cardiomyopathy, Familial

  • Familial Idiopathic Cardiomyopathy

  • Fdc

  • Cardiomyopathy, Familial Idiopathic

  • Idiopathic Cardiomegaly

  • Dilated Congestive Cardiomyopathy

  • Chronic Dilated Cardiomyopathy

  • Ccm - [Congestive Cardiomyopathy]

  • Cocm - [Congestive Cardiomyopathy]

  • Dcm - [Dilated Cardiomyopathy]

  • Dilated-Hypokinetic Cardiomyopathy

  • Congestive Idiopathic Cardiomyopathy

  • Primary Idiopathic Dilated Cardiomyopathy

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

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

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

Orthologs Information

Species Symbol Source ID
Macaca mulatta MFN1 VGNC VGNC:74529
Mus musculus MFN1 MGD MGI:1914664
Canis familiaris MFN1 VGNC VGNC:43192
Bos taurus MFN1 VGNC VGNC:31427
Felis catus MFN1 VGNC VGNC:63471
Rattus norvegicus MFN1 RGD RGD:621460
Others MFN1 NCBI