TWNK - twinkle mtDNA helicase Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 56652

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	References	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	References	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	References	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

TWNK Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	TWNK	Q96RR1	LGALS3BP	Homo sapiens	Q08380	Anti Tag CoIP	33961781
Intra	TWNK	Q96RR1	LGALS3BP	Homo sapiens	Q08380	Anti Tag CoIP	28514442

Cross: Cross-species interaction Intra: Intraspecies interaction

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

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-RS15283	TWNK Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20832	Twnk Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27346	Twnk Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	TWNK	NCBI