OPA1 - OPA1 mitochondrial dynamin like GTPase Gene

Also Known as NPG; NTG; MGM1; BERHS; largeG; MTDPS14

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4976

About OPA1

Cytogenetic location: 3q29 Genomic coordinates (GRCh38): 3:193,593,208-193,697,811 (from NCBI)

This gene has 32 transcripts (splice variants), 214 orthologues, 6 paralogues and is associated with 10 phenotypes. Ubiquitous expression in brain (RPKM 20.5), heart (RPKM 17.2) and 25 other tissues.

Summary

The protein encoded by this gene is a nuclear-encoded mitochondrial protein with similarity to dynamin-related GTPases. The encoded protein localizes to the inner mitochondrial membrane and helps regulate mitochondrial stability and energy output. This protein also sequesters cytochrome c. Mutations in this gene have been associated with optic atrophy type 1, which is a dominantly inherited optic neuropathy resulting in progressive loss of visual acuity, leading in many cases to legal blindness. [provided by RefSeq, Aug 2017]

OPA1 Products (10)

mRNA Protein Name
NM_001354663.2 NP_001341592.1 dynamin-like 120 kDa protein, mitochondrial isoform 9
NM_001354664.2 NP_001341593.1 dynamin-like 120 kDa protein, mitochondrial isoform 10
NM_015560.3 NP_056375.2 dynamin-like 120 kDa protein, mitochondrial isoform 1 preproprotein
NM_130831.3 NP_570844.1 dynamin-like 120 kDa protein, mitochondrial isoform 2
NM_130832.3 NP_570845.1 dynamin-like 120 kDa protein, mitochondrial isoform 3
NM_130833.3 NP_570846.1 dynamin-like 120 kDa protein, mitochondrial isoform 4
NM_130834.3 NP_570847.2 dynamin-like 120 kDa protein, mitochondrial isoform 5 preproprotein
NM_130835.3 NP_570848.1 dynamin-like 120 kDa protein, mitochondrial isoform 6
NM_130836.3 NP_570849.2 dynamin-like 120 kDa protein, mitochondrial isoform 7
NM_130837.3 NP_570850.2 dynamin-like 120 kDa protein, mitochondrial isoform 8
Molecular Function GO Annotation Evidence References Source
enables GTPase activity IDA
IDA: Inferred from direct assay
20185555 GOA
enables GTPase-dependent fusogenic activity IDA
IDA: Inferred from direct assay
28628083 GOA
enables cardiolipin binding IDA
IDA: Inferred from direct assay
20185555 GOA
enables membrane bending activity IDA
IDA: Inferred from direct assay
32228866 GOA
enables phosphatidic acid binding IDA
IDA: Inferred from direct assay
20185555 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
20436456 GOA
Biological Process GO Annotation Evidence References Source
involved in GTP metabolic process IDA
IDA: Inferred from direct assay
20185555 GOA
involved in cellular senescence IDA
IDA: Inferred from direct assay
17545159 GOA
involved in cristae formation IDA
IDA: Inferred from direct assay
32245890 GOA
involved in cristae formation IMP
IMP: Inferred from mutant phenotype
32567732 GOA
involved in inner mitochondrial membrane organization IDA
IDA: Inferred from direct assay
12509422 GOA
involved in membrane tubulation IDA
IDA: Inferred from direct assay
20185555 GOA
involved in mitochondrial fusion IDA
IDA: Inferred from direct assay
17545159 GOA
involved in mitochondrial fusion IMP
IMP: Inferred from mutant phenotype
20185555 GOA
involved in mitochondrial genome maintenance IMP
IMP: Inferred from mutant phenotype
18158317 GOA
involved in mitochondrial inner membrane fusion IDA
IDA: Inferred from direct assay
28628083 GOA
acts upstream of or within mitochondrion organization IMP
IMP: Inferred from mutant phenotype
21149567 GOA
involved in negative regulation of apoptotic process IDA
IDA: Inferred from direct assay
12509422 GOA
involved in negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway IGI
IGI: Inferred from genetic interaction
23453807 GOA
involved in negative regulation of release of cytochrome c from mitochondria IMP
IMP: Inferred from mutant phenotype
21149567 GOA
involved in protein complex oligomerization IDA
IDA: Inferred from direct assay
20185555 GOA
involved in visual perception IMP
IMP: Inferred from mutant phenotype
11017080 GOA
Cellular Component GO Annotation Evidence References Source
located in mitochondrial crista IDA
IDA: Inferred from direct assay
12504110 GOA
is active in mitochondrial inner membrane IDA
IDA: Inferred from direct assay
37612504 GOA
is active in mitochondrial intermembrane space IDA
IDA: Inferred from direct assay
32228866 GOA
located in mitochondrial intermembrane space IDA
IDA: Inferred from direct assay
17008324 GOA
located in mitochondrial outer membrane IDA
IDA: Inferred from direct assay
12504110 GOA
located in mitochondrion IDA
IDA: Inferred from direct assay
17545159 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

OPA1 Protein Structure

Dynamin_N

Dynamin_N: Dynamin family (291 - 469)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 960 a.a.
Protein Preferred Names Protein Names

dynamin-like 120 kDa protein, mitochondrial

  • dynamin-like guanosine triphosphatase

OPA1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
OPA1 O60313 LRRK2 Homo sapiens Q5S007 24282027
Intra
OPA1 O60313 LRRK2 Homo sapiens Q5S007 24282027
Intra
OPA1 O60313 BNIP3 Homo sapiens Q12983 20436456
Cross: Cross-species interaction Intra: Intraspecies interaction

OPA1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P80255 OPA1 Antibody (YA256) WB, IHC-P, FC Human, Mouse, Rat
HY-P86998 OPA1 Antibody (YA6691) WB, IHC-P, ICC/IF, FC, IP Human, Mouse, Rat

Related Diseases

Diseases Alias
Optic Atrophy 1
  • OPA1

  • Optic Atrophy Type 1

  • Optic Atrophy, Juvenile

  • Kjer-Type Optic Atrophy

  • Optic Atrophy, Kjer Type

  • Oak

  • Optic Atrophy, Autosomal Dominant

  • Autosomal Dominant Optic Atrophy, Classic Form

  • Autosomal Dominant Optic Atrophy Classic Form

  • Adoa

  • Autosomal Dominant Optic Atrophy

  • Autosomal Dominant Optic Atrophy Kjer Type

  • Doa

  • Dominant Optic Atrophy

  • Kjer Type Optic Atrophy

  • Kjer'S Optic Atrophy

  • Optic Atrophy, Hereditary, Autosomal Dominant

  • Autosomal Dominant Optic Atrophy, Kjer Type

  • Kjer Optic Atrophy

  • Optic Atrophy Juvenile

  • Optic Atrophy Kjer Type

  • Atrophy, Optic, Type 1

Mitochondrial Dna Depletion Syndrome 14
  • MTDPS14

  • Mitochondrial Dna Depletion Syndrome 14, Cardioencephalomyopathic Type

  • Mitochondrial Dna Depletion Syndrome, Type 14

Behr Syndrome
  • BEHRS

  • Abortive Cerebellar Ataxia

  • Optic Atrophy, Infantile Hereditary, With Neurologic Abnormalities

  • Optic Atrophy, Infantile Hereditary, Behr Complicated Form Of

  • Optic Atrophy In Early Childhood, Associated With Ataxia, Spasticity, Mental Retardation, And Posterior Column Sensory Loss

  • Obsolete: Behr Syndrome

  • Optic Atrophy In Early Childhood, Associated With Ataxia, Spasticity, Intellectual Disability, And Posterior Column Sensory Loss

  • Infantile Hereditary Optic Atrophy With Neurologic Abnormalities

Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
  • Dominant Optic Atrophy Plus Syndrome

  • DOA+

  • Adoa

  • Autosomal Dominant Optic Atrophy

  • Doa

  • Optic Atrophy Plus Syndrome

  • Dominant Optic Atrophy

  • Optic Atrophy With Or Without Deafness Ophthalmoplegia Myopathy Ataxia And Neuropathy

  • Optic Atrophy, Dominant

  • 3-Methylglutaconic Aciduria Type 3

  • Optic Atrophy, Autosomal Dominant

Glaucoma, Normal Tension
  • Low Tension Glaucoma

  • Glaucoma, Normal Tension, Susceptibility To

  • Normal Tension Glaucoma

  • Ntg

  • Glaucoma, Normal Pressure

  • NPG

  • Glaucoma, Normal Pressure, Susceptibility To

  • Poag/Npg - [Normal Pressure Primary Open-Angle Glaucoma]

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

Autosomal Dominant Optic Atrophy Plus Syndrome
  • Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome

  • Capos Syndrome

  • Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy

  • Optic Atrophy-Deafness-Polyneuropathy-Myopathy Syndrome

  • Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy And Sensorinural Hearing

  • Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy And Sensorinural Hearing Loss

  • Capos

  • Cerebellar Ataxia - Areflexia - Pes Cavus - Optic Atrophy - Sensorineural Hearing Loss

  • Dominant Optic Atrophy Plus Syndrome

  • Dominant Optic Atrophy, Deafness, Ptosis, Ophthalmoplegia, Dystaxia, And Myopathy

  • Optic Atrophy - Deafness- Polyneuropathy - Myopathy

  • Treft-Sanborn-Carey Syndrome

  • Doa+

  • Optic Atrophy-Hearing Loss-Polyneuropathy-Myopathy Syndrome

  • Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Deafness Syndrome

  • Optic Atrophy Autosomal Dominant

  • Treft Sanborn Carey Syndrome

Mitochondrial Disease
  • Mitochondrial Diseases

  • Mitochondrial Disorder

Fundus Dystrophy
  • Retinal Dystrophy

  • Retinal Dystrophies

  • Dystrophy, Retinal

Scotoma
  • Enlarged Blind Spot

  • Scotoma Of Blind Spot Area

  • Blind Spot Area Scotoma

  • Enlarged Angioscotoma

  • Enlarged Paracaecal Scotoma

  • Generalized Visual Field Contraction Or Constriction

  • Sector Or Arcuate Visual Field Defects

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

Open-Angle Glaucoma
  • Glaucoma Simplex

  • Pigmentary Glaucoma

  • Wide-Angle Glaucoma

  • Glaucoma, Open-Angle

  • Open Angle Glaucoma

  • Glaucoma Open-Angle

  • Chronic Simple Glaucoma

  • Coag - [Chronic Open-Angle Glaucoma]

  • Csg - [Chronic Simple Glaucoma]

  • Poag - [Primary Open-Angle Glaucoma]

  • Oag - [Open-Angle Glaucoma]

  • Chronic Glaucoma

  • Chronic Open Angle Glaucoma

  • Simple Glaucoma

  • Chronic Noncongestive Glaucoma

  • Ltg - [Low Tension Glaucoma]

  • Noncongestive Glaucoma

  • Nonobstructive Glaucoma

  • Normal Pressure Glaucoma

  • Primary Low Tension Glaucoma

  • Low-Tension Glaucoma

  • Residual Stage Low Tension Glaucoma

  • Open Cleft Glaucoma

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

Neuropathy
  • Peripheral Neuropathy

  • Peripheral Neuropathies

Mitochondrial Dna Depletion Syndrome
  • Mtdna Depletion Syndrome

Intraocular Pressure Quantitative Trait Locus
  • Glaucoma

  • IOPQTL

  • Glaucoma, Susceptibility To

  • Postinfectious Glaucoma

  • Glaucoma With Ocular Inflammation

  • Glaucoma Secondary To Eye Inflammation

  • Traumatic Glaucoma

  • Glaucoma With Concussion Of Globe

  • Glaucoma Due To Ocular Trauma

  • Glaucoma Associated With Ocular Trauma

  • Glaucoma Secondary To Drugs

Hypertrophic Cardiomyopathy
  • Hypertrophic Obstructive Cardiomyopathy

  • Cardiomyopathy, Hypertrophic

  • Cardiomyopathy Hypertrophic Obstructive

  • Cardiomyopathy, Hypertrophic, Familial

  • Idiopathic Myocardial Hypertrophy

  • Idiopathic Hypertrophic Cardiomyopathy

  • Obstructive Idiopathic Hypertrophic Cardiomyopathy

  • Obstructive Cardiomyopathy

  • Idiopathic Hypertrophic Subaortic Stenosis

  • Muscular Subaortic Stenosis

  • Hypertrophic Obstructive Subaortic Stenosis

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

Sensorineural Hearing Loss
  • Sensory Hearing Loss

  • Sensorineural Deafness

  • Sensorineural Hearing Loss Disorder

  • Hearing Loss, Sensorineural

  • Central Hearing Loss

  • High Frequency Deafness

  • High Frequency Hearing Loss

  • High-Frequency Hearing Loss

  • Perceptive Deafness

  • Perceptive Hearing Loss

  • Perceptive Hearing Loss Or Deafness

  • Hearing Loss Sensorineural

  • Deafness Sensorineural

  • Hearing Loss High-Frequency

  • Hearing Loss, Central

  • Hearing Loss, High-Frequency

Cranial Nerve Disease
  • Cranial Nerve Disorder

  • Disorder Of Cranial Nerve

  • Cranial Nerve Diseases

Optic Atrophy 5
  • OPA5

  • Atrophy, Optic, Type 5

Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
  • OPA10

  • Optic Atrophy 10 With Or Without Ataxia, Intellectual Disability, And Seizures

  • Optic Atrophy 10

  • Atrophy, Optic, Type 10, With/Without Ataxia, Mental Retardation, And Seizures

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

Optic Atrophy 11
  • OPA11

  • Atrophy, Optic, Type 11

Optic Atrophy 7 With Or Without Auditory Neuropathy
  • Optic Atrophy 7

  • OPA7

  • Autosomal Recessive Optic Atrophy, Opa7 Type

  • Optic Atrophy-7

  • Atrophy, Optic, Type 7, With/Without Auditory Neuropathy

Optic Atrophy 9
  • OPA9

  • Atrophy, Optic, Type 9

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

Kearns-Sayre Syndrome
  • Ophthalmoplegia

  • Mitochondrial Cytopathy

  • KSS

  • Ophthalmoplegia, Pigmentary Degeneration Of Retina, And Cardiomyopathy

  • Oculocraniosomatic Syndrome

  • Chronic Progressive External Ophthalmoplegia With Myopathy

  • Cpeo With Myopathy

  • Total Ophthalmoplegia

  • Ophthalmoplegia-Plus Syndrome

  • Ophthalmoplegia, Progressive External, With Ragged-Red Fibers

  • Cpeo With Ragged-Red Fibers

  • Oculomotor Paralysis

  • Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication O

  • Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication Of Mitochondrial Dna

  • Proximal Tubulopathy, Diabetes Mellitus And Cerebellar Ataxia

  • Cpeo With Ragged Red Fibers

  • Ophthalmoplegia Plus Syndrome

  • Ophthalmoplegia, Progressive External, With Ragged Red Fibers

  • Kearns-Sayre Mitochondrial Cytopathy

  • Mitochondrial Myopathies

Chronic Progressive External Ophthalmoplegia
  • Progressive External Ophthalmoplegia

  • Cpeo

  • Peo

  • Ophthalmoplegia, Chronic Progressive External

  • Ophthalmoplegia, External, Progressive, Chronic

  • Graefe Disease

  • Peo - [Progressive External Ophthalmoplegia]

  • Ophthalmoplegia Plus Syndrome

Barth Syndrome
  • 3-Methylglutaconic Aciduria Type 2

  • BTHS

  • Cardioskeletal Myopathy With Neutropenia And Abnormal Mitochondria

  • Mga Type Ii

  • Mga2

  • Mgca2

  • Mga Type 2

  • 3-Methylglutaconic Aciduria Type Ii

  • 3-Methylglutaconic Aciduria, Type Ii

  • Mga, Type Ii

  • 3-Methylglutaconicaciduria Type 2

  • 3-Methylglutaconicaciduria Type Ii

  • Taz Defect

  • 3 Methylglutaconic Aciduria, Type Ii

  • Dnajc19 Defect

  • Cardioskeletal Myopathy-Neutropenia Syndrome

  • X-Linked Cardioskeletal Myopathy And Neutropenia

  • 3-Alpha-Methylglutaconic Aciduria Type 2

  • Agm2

  • Cardioskeletal Myopathy-Neutropenia

  • Invm

  • Left Ventricular Non-Compaction Isolated X-Linked

  • Non-Compaction Of Left Ventricular Myocardium Isolated X-Linked

  • Agammaglobulinemia 2, Autosomal Recessive

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

Mitochondrial Myopathy
  • Mitochondrial Myopathies

  • Mitochondrial Cytopathy

  • Myopathies In Mitochondrial Disorders

Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
  • PEOA4

  • Autosomal Dominant Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions 4

  • Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 4

  • Chronic Progressive External Ophthalmoplegia

  • Progressive External Ophthalmoplegia, Autosomal Dominant 4

  • Autosomal Dominant Progressive External Ophthalmoplegia 4

  • Cpeo

  • Graefe Disease

  • Mitochondrial Ocular Myopathy

  • Ocular Myopathy Of Von Graefe-Fuchs

  • Progressive External Ophthalmoplegia Autosomal Dominant 4

  • Ophthalmoplegia, External, Progressive, With Mitochondrial Dna Deletions, Autosomal Dominant, Type 4

  • Kearns-Sayre Syndrome

Cataract
  • Cataracts

  • Cat - [Cataract]

  • Cataract Form

  • Lens Opacity

  • Lens Opacities

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

Neuromuscular Disease
  • Neuromuscular Diseases

  • Neuromuscular Disorders

  • Neuromuscular Disorder

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

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

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

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
Rattus norvegicus OPA1 RGD RGD:708423
Macaca mulatta OPA1 VGNC VGNC:75586
Felis catus OPA1 VGNC VGNC:102793
Mus musculus OPA1 MGD MGI:1921393
Bos taurus OPA1 VGNC VGNC:32432
Others OPA1 NCBI