TWNK - twinkle mtDNA helicase Gene

Homo sapiens

Also known as PEO; PEO1; SCA8; ATXN8; IOSCA; PEOA3; SANDO; TWINL; MTDPS7; PRLTS5; C10orf2

Gene ID: 56652 | Gene type: protein coding

About TWNK

Cytogenetic location: 10q24.31 Genomic coordinates (GRCh38): 10:100,987,543-100,994,403 (from NCBI)

This gene has 9 transcripts (splice variants), 208 orthologues and is associated with 9 phenotypes. Ubiquitous expression in testis (RPKM 6.0), lymph node (RPKM 3.3) and 25 other tissues.

Summary

This gene encodes a hexameric DNA helicase which unwinds short stretches of double-stranded DNA in the 5' to 3' direction and, along with mitochondrial single-stranded DNA binding protein and mtDNA polymerase gamma, is thought to play a key role in mtDNA replication. The protein localizes to the mitochondrial matrix and mitochondrial nucleoids. Mutations in this gene cause infantile onset spinocerebellar ataxia (IOSCA) and progressive external ophthalmoplegia (PEO) and are also associated with several mitochondrial depletion syndromes. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Aug 2009]

TWNK Products(5)

mRNA	Protein	Name
NM_001163812.2	NP_001157284.1	twinkle mtDNA helicase isoform B
NM_001163813.2	NP_001157285.1	twinkle mtDNA helicase isoform C
NM_001163814.2	NP_001157286.1	twinkle mtDNA helicase isoform D
NM_001368275.1	NP_001355204.1	twinkle mtDNA helicase isoform C
NM_021830.5	NP_068602.2	twinkle mtDNA helicase isoform A

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables 5'-3' DNA helicase activity	IDA IDA: Inferred from direct assay	12975372	GOA
enables ATP hydrolysis activity	IDA IDA: Inferred from direct assay	34950192	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	18971204	GOA
enables lipid binding	IDA IDA: Inferred from direct assay	34950192	GOA
enables protease binding	IPI IPI: Inferred from physical interaction	14739292	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	28514442	GOA
enables single-stranded DNA binding	IDA IDA: Inferred from direct assay	18971204	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in DNA unwinding involved in DNA replication	IDA IDA: Inferred from direct assay	15167897	GOA
involved in mitochondrial DNA replication	IMP IMP: Inferred from mutant phenotype	18971204	GOA
involved in mitochondrial transcription	IMP IMP: Inferred from mutant phenotype	18971204	GOA
involved in protein hexamerization	IDA IDA: Inferred from direct assay	18971204	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
is active in mitochondrial chromosome	IDA IDA: Inferred from direct assay	26253742	GOA
located in mitochondrial nucleoid	IDA IDA: Inferred from direct assay	18063578	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

TWNK Protein Structure

AAA_25

0
200
400
600
684 a.a.

Protein Preferred Names

Protein Names

twinkle mtDNA helicase

T7 gp4-like protein with intramitochondrial nucleoid localization

Related Diseases

Diseases

Alias

Mitochondrial Dna Depletion Syndrome 7

Ohaha Syndrome	Infantile Onset Spinocerebellar Ataxia
Iosca	Infantile-Onset Spinocerebellar Ataxia
Spinocerebellar Ataxia 8	MTDPS7
Ophthalmoplegia, Hypotonia, Ataxia, Hypacusis, And Athetosis	Ophthalmoplegia-Hypotonia-Ataxia-Hypoacusis-Athetosis Syndrome
Sca8	Spinocerebellar Ataxia Infantile With Sensory Neuropathy
Spinocerebellar Ataxia, Infantile-Onset	Ophthalmoplegia, Hypotonia, Ataxia, Hypoacusis, And Athetosis
Spinocerebellar Ataxia, Infantile, With Sensory Neuropathy	Spinocerebellar Ataxia 8, Formerly
Sca8, Formerly	Iosca, Mitochondrial Dna Depletion Syndrome 7
Ophthalmoplegia - Hypotonia - Ataxia - Hypoacusis - Athetosis	Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form
Mtdna Depletion Syndrome, Hepatocerebrorenal Form	Mitochondrial Dna Depletion Syndrome 7 Hepatocerebral Type
Ophthalmoplegia Hypotonia Ataxia Hypoacusis And Athetosis	Pure Spinocerebellar Ataxia Japanese Type
Sca4 Pure Japanese Type	Spinocerebellar Ataxia Infantile-Onset
Mitochondrial Dna Depletion Syndrome , Type 7

Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3

PEOA3	Autosomal Dominant Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions 3
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 3	Chronic Progressive External Ophthalmoplegia
Progressive External Ophthalmoplegia, Autosomal Dominant 3	Autosomal Dominant Progressive External Ophthalmoplegia 3
Cpeo	Graefe Disease
Mitochondrial Ocular Myopathy	Ocular Myopathy Of Von Graefe-Fuchs
Progressive External Ophthalmoplegia Autosomal Dominant 3	Progressive External Ophthalmoplegia, Autosomal Dominant, 3
Ophthalmoplegia, External, Progressive, With Mitochondrial Dna Deletions, Autosomal Dominant, Type 3	Kearns-Sayre Syndrome

Perrault Syndrome 5

PRLTS5

Perrault Syndrome, Type 5

Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1

PEOA1	Autosomal Dominant Progressive External Ophthalmoplegia 1
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 1	Chronic Progressive External Ophthalmoplegia
Progressive External Ophthalmoplegia, Autosomal Dominant 1	Cpeo
Graefe Disease	Mitochondrial Ocular Myopathy
Ocular Myopathy Of Von Graefe-Fuchs	Progressive External Ophthalmoplegia Autosomal Dominant
Ophthalmoplegia, External, Progressive, With Mitochondrial Dna Deletions, Autosomal Dominant, Type 1	Kearns-Sayre Syndrome

Spinocerebellar Ataxia 8

Spinocerebellar Ataxia Type 8	SCA8
Ataxia, Spinocerebellar, Type 8

Autosomal Dominant Progressive External Ophthalmoplegia

Adpeo

Mitochondrial Disease

Mitochondrial Diseases

Mitochondrial Disorder

Perrault Syndrome

Gonadal Dysgenesis, Xx Type, With Deafness	Ovarian Dysgenesis With Sensorineural Deafness
Gonadal Dysgenesis, Xx Type	Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance
Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance	Xx Gonodal Dysgenesis-Deafness Syndrome
Xx Gonodal Dysgenesis-Hearing Loss Syndrome	Gonadal Dysgenesis Xx Type Deafness

Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis

SANDO	Mitochondrial Recessive Ataxia Syndrome
Spinocerebellar Ataxia With Epilepsy	Epilepsy, Progressive Myoclonic 5
Epm5	Miras
SCAE	Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions, Autosomal Recessive
Autosomal Recessive Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions	Progressive Myoclonic Epilepsy Type 5
Pme Type 5	Progressive Myoclonus Epilepsy Type 5
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Recessive Mitochondrial Ataxia Syndrome
Sensory Ataxic Neuropathy Dysarthria And Ophthalmoparesis	Mitochondrial Spinocerebellar Ataxia-Epilepsy Syndrome
Mscae	Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions Autosomal Recessive
Progressive Myoclonic Epilepsy With Sensory Ataxic Neuropathy	Epilepsy, Progressive Myoclonic, 5
Ataxia Neuropathy Spectrum

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

Mental Depression

Depression

Depressive Disorder

Mitochondrial Dna Depletion Syndrome

Mtdna Depletion Syndrome

Polg-Related Disorders

Polg- Related Disorder

Major Depressive Disorder

Seasonal Affective Disorder	Unipolar Depression
Depression	MDD
Depressive Disorder	Unipolar Depression, Susceptibility To
Major Depressive Disorder 1	Major Depressive Disorder, Response To Citalopram Therapy In
Major Depressive Disorder 2	Winter Depression
Single Major Depressive Episode	Sad
Clinical Depression	Major Depression
Depressive Syndrome	Major Depressive Disorder And Accelerated Response To Antidepressant Drug Treatment
Seasonal Affective Disorder, Susceptibility To	Recurrent Major Depression
Affective Disorder, Seasonal	Depression In A Seasonal Pattern
Depression	Seasonal
Major Depressive Disorder With A Seasonal Pattern	Seasonal Depression
Seasonal Mood Disorder	Mental Depression
Recurrent Major Depressive Episodes

Parkinsonism

Parkinsonism-Plus	Idiopathic Parkinsonism
Primary Parkinsonism	Paralysis Agitans Syndrome
Parkinsonian Syndrome	Trembling Paralysis
Paralysis Agitans	Shaking Palsy
Shaking Paralysis

Axonal Neuropathy

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

Neuropathy

Peripheral Neuropathy

Peripheral Neuropathies

Mitochondrial Metabolism Disease

Abnormality Of Mitochondrial Metabolism

Mitochondrial Diseases

Athetosis

Mitochondrial Dna Depletion Syndrome 6

Navajo Neurohepatopathy	Navajo Neuropathy
MTDPS6	Nnh
Nn	Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome
Navajo Familial Neurogenic Arthropathy	Mpv17-Associated Hepatocerebral Mds
Mitochondrial Dna Depletion 6 Hepatocerebral Type	Mitochondrial Dna Depletion Syndrome , Type 6

Ocular Motility Disease

Ocular Motility Disorders	Abnormality Of Eye Movement
Disorder Of Eye Movements	Eye Movement Disorder
Eye Movement Disorders

Mitochondrial Dna Depletion Syndrome 4a

Alpers Syndrome	Alpers-Huttenlocher Syndrome
Alpers Progressive Infantile Poliodystrophy	Alpers Diffuse Degeneration Of Cerebral Gray Matter With Hepatic Cirrhosis
Alpers Disease	Progressive Sclerosing Poliodystrophy
Pndc	Diffuse Cerebral Sclerosis Of Schilder
MTDPS4A	Neuronal Degeneration Of Childhood With Liver Disease, Progressive
Alper'S Syndrome	Alpers' Disease Or Gray-Matter Degeneration
Diffuse Cerebral Degeneration In Infancy	Infantile Poliodystrophy
Poliodystrophia Cerebri Progressiva	Progressive Cerebral Poliodystrophy
Alpers' Disease	Alpers Progressive Sclerosing Poliodystrophy
Progressive Neuronal Degeneration Of Childhood With Liver Disease	Ahs
Mitochondrial Dna Depletion Syndrome 4a Alpers Type	Neuronal Degeneration Of Childhood With Liver Disease Progressive

Myotonic Cataract

Lichtenstein-Knorr Syndrome

Scar19	LIKNS
Autosomal Recessive Spinocerebellar Ataxia 19	Spinocerebellar Ataxia, Autosomal Recessive 19
Progressive Autosomal Recessive Ataxia-Deafness Syndrome	Progressive Autosomal Recessive Ataxia-Sensorineural Hearing Loss Syndrome
Spinocerebellar Ataxia, Autosomal Recessive, 19

Myopathy

Muscular Diseases

Myopathies

Bile Acid Synthesis Defect, Congenital, 1

CBAS1	Congenital Bile Acid Synthesis Defect 1
3-Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase Deficiency	Congenital Bile Acid Synthesis Defect Type 1
Basd1	Congenital Bile Acid Synthesis Defect, Type 1
3-Alpha Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase, Deficiency Of	3beta-Hsdh Deficiency
3beta-Hydroxy-Delta-5-C27-Steroid Dehydrogenase Deficiency	3beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase Deficiency
Neonatal Progressive Intrahepatic Cholestasis	Pfic4
Progressive Familial Intrahepatic Cholestasis Type 4	Bile Acid Synthesis Defect, Congenital, Type 1
Cholestasis, Progressive Familial Intrahepatic 4

Pearson Marrow-Pancreas Syndrome

Pearson Syndrome	Sideroblastic Anemia With Marrow Cell Vacuolization And Exocrine Pancreatic Dysfunction
Pearson'S Marrow/Pancreas Syndrome	Pearson'S Syndrome
Pearson'S Marrow-Pancreas Syndrome

Neuropathy, Ataxia, And Retinitis Pigmentosa

Narp Syndrome	NARP
Neurogenic Muscle Weakness, Ataxia, And Retinitis Pigmentosa	Neurogenic Muscle Weakness-Ataxia-Retinitis Pigmentosa Syndrome
Neuropathy-Ataxia-Retinitis Pigmentosa Syndrome	Neuropathy, Ataxia And Retinitis Pigmentosa
Neuropathy Ataxia Retinitis Pigmentosa Syndrome	Neuropathy, Ataxia, And Retinitis Pigmentos
Neuropathy Ataxia And Retinitis Pigmentosa	Neuropathy, Ataxia, Retinitis Pigmentosa
Neuropathy Ataxia And Retinis Pigmentosa	Narp - [Neuropathy, Ataxia And Retinitis Pigmentosa] Syndrome

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

Mitochondrial Myopathy

Mitochondrial Myopathies	Mitochondrial Cytopathy
Myopathies In Mitochondrial Disorders

Mitochondrial Dna Depletion Syndrome 4b

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome	Mngie Syndrome
Thymidine Phosphorylase Deficiency	MTDPS4B
Mitochondrial Neurogastrointestinal Encephalopathy Disease	Mngie
Myoneurogastrointestinal Encephalopathy Syndrome	Ogimd
Oculogastrointestinal Muscular Dystrophy	Polip
Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, And Intestinal Pseudo-Obstruction	Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Polg-Related
Mngie, Polg-Related	Mepop
Mitochondrial Myopathy With Sensorimotor Polyneuropathy, Ophthalmoplegia, And Pseudo-Obstruction	Mngie Disease
Mitochondrial Dna Depletion Syndrome 4b Mngie Type	Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Polg-Related
Mngie Polg-Related	Mitochondrial Dna Depletion Syndrome, Type 4b
Visceral Myopathy Familial External Ophthalmoplegia

Huntington Disease-Like 2

HDL2	Huntington'S Disease-Like 2
Huntington Disease-Like, Type 2

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

Mitochondrial Complex Iii Deficiency, Nuclear Type 2

Mitochondrial Complex Iii Deficiency Nuclear Type 2	MC3DN2
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	MC2DN3
Mitochondrial Complex 2 Deficiency, Nuclear Type 3	Mitochondrial Complex Iii Deficiency, Nuclear 2

Marinesco-Sjogren Syndrome

Marinesco-Sjögren Syndrome	MSS
Marinesco-Garland Syndrome	Garland-Moorhouse Syndrome
Hereditary Oligophrenic Cerebello-Lental Degeneration	Oligophrenic Cerebellolenticular Degeneration
Marinesco-Sjogren Syndrome-Hypergonadotrophic Hypogonadism	Marinesco-Sjogren Syndrome-Myopathy
Marinesco-Sjogren-Garland Syndrome	Marinesco-Sjoegren Syndrome

3-Methylglutaconic Aciduria

3-Methyl Glutaconic Aciduria

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

Cranial Nerve Disease

Cranial Nerve Disorder	Disorder Of Cranial Nerve
Cranial Nerve Diseases

Mitochondrial Encephalomyopathy

Mitochondrial Encephalomyopathies

Encephalomyopathy, Mitochondrial

Early Myoclonic Encephalopathy

Myoclonic Epilepsy	Myoclonic Seizure
Epilepsies, Myoclonic	Epileptic Seizures - Myoclonic
Epileptic Seizures, Myoclonic	Myoclonia Epileptica
Myoclonic Seizure Disorder	Early Myoclonic Encephalopathy With Suppression-Bursts

Myoclonic Epilepsy Associated With Ragged-Red Fibers

Merrf Syndrome	MERRF
Fukuhara Syndrome	Myoclonic Epilepsy Associated With Ragged Red Fibers
Myoencephalopathy Ragged-Red Fiber Disease	Myoclonic Epilepsy - Ragged Red Fibers
Myoclonus Epilepsy And Ragged Red Fibers	Myoclonus With Epilepsy And With Ragged Red Fibers
Myoclonic Epilepsy With Ragged Red Fibers	Myoclonic Epilepsy With Ragged-Red Fibers
Fukuhara Disease	Myoclonus Epilepsy Associated With Ragged-Red Fibres
Myoclonus With Epilepsy With Ragged Red Fibers

Autosomal Dominant Cerebellar Ataxia

Spinocerebellar Ataxia	Adca
Pierre Marie Cerebellar Ataxia	Ataxia, Spinocerebellar
Sca	Autosomal Dominant Spinocerebellar Ataxia
Spinocerebellar Ataxias

Multiple Synostoses Syndrome

Symphalangism-Brachydactyly Syndrome	Deafness-Hermann Type Symphalangism Syndrome
Facio-Audio-Symphalangism	Hearing Loss-Hermann Type Symphalangism Syndrome
Wl Syndrome	Multiple Synostosis Syndrome

Fragile X-Associated Tremor/Ataxia Syndrome

Fxtas Syndrome	Fragile X Tremor/Ataxia Syndrome
Fxtas

Premature Menopause

Primary Ovarian Insufficiency	Premature Ovarian Failure
Hypergonadotropic Hypogonadism	Premature Ovarian Insufficiency
Menopause - Premature	Menopause Praecox
Menopause Premature	Menopause, Premature
Female Hypergonadotropic Hypogonadism	Hypergonadotrophic Ovarian Failure
Primary Female Hypogonadism	Pof - [Premature Ovarian Failure]
Ovarian Failure	Ovarian Secretion Suppression
Ovary Hyposecretion	Ovary Secretion Deficiency
Premature Menopause Nos

Hereditary Ataxia

Sca	Spinocerebellar Ataxia
Ataxias Hereditary	Ataxias, Hereditary

Cerebellar Disease

Cerebellar Diseases	Cerebellar Dysfunction
Cerebellar Abnormality	Cerebellar Disorders

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Melas Syndrome	MELAS
Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes	Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode
Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes	Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke
Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes	Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes	Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome
Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Ptosis

Blepharoptosis	Drooping Eyelid
Droopy Eyelid	Ptosis Of Eyelid
Paralysis Of Levator Palpebrae Superioris

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

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

Spastic Ataxia

Spax	Ataxia, Spastic

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

Peripheral Nervous System Disease

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

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15283	TWNK Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	TWNK	VGNC	VGNC:36527
Rattus norvegicus	TWNK	RGD	RGD:1307884
Mus musculus	TWNK	MGD	MGI:2137410
Felis catus	TWNK	VGNC	VGNC:66717
Canis familiaris	TWNK	VGNC	VGNC:48003
Macaca mulatta	TWNK	VGNC	VGNC:106113